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[PMID]: 25467415
[Au] Autor:Zouahri A; Dakak H; Douaik A; El Khadir M; Moussadek R
[Ad] Address:Research Unit on Environment and Conservation of Natural Resources, Regional Center of Rabat, National Institute of Agricultural Research (INRA), Avenue Mohamed Belarbi Alaoui, PO Box 6356, Rabat, Morocco, zouahri@yahoo.fr.
[Ti] Title:Evaluation of groundwater suitability for irrigation in the Skhirat region, Northwest of Morocco.
[So] Source:Environ Monit Assess;187(1):4184, 2015 Jan.
[Is] ISSN:1573-2959
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Morocco has arid and semiarid climates. Irrigation is an imperative for agriculture. Skhirat region is known for the production of vegetables. Intensive peri-urban agriculture is associated with inconsiderate pumping of groundwater, and water becomes less abundant and of poor quality resulting in degradation of soil and water quality. Therefore, the objective of this research work was the assessment of the quality of irrigation water. The study site is located in a coastal area and dedicated to intensive land use for growing vegetables in a peri-urban agricultural zone. Monitoring of physicochemical parameters of water was carried out in 77 wells. Parameters like pH, electrical conductivity, and piezometric level were measured in situ while others like total dissolved solids and ionic balance were measured in laboratory whereas other parameters were calculated from those measured. Results showed that Na and Ca are predominant cations while Cl and SO4 are predominant anions. Piper diagram reveals two facies: sodic and calcic chlorinated. Regarding the permeability index, all wells are suitable for irrigation. The US Salinity Laboratory (USSL) diagram reveals that irrigation water has high salinization risk and low to medium alkalinization risk. The groundwater in the region is classified as very hard category; however, it does not present any risk of sodicity. These waters have a high risk of toxicity to chloride ions. In summary, although the groundwater in the Skhirat region presents a high risk of salinization, it is of good quality suitable for irrigation. Agricultural practices should be well managed to secure safe use of the water resource for a sustainable development of the agriculture in the region.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1412
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s10661-014-4184-9

  2 / 5407 MEDLINE  
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[PMID]: 25224966
[Au] Autor:Thomas C; Ionescu D; Ariztegui D; DSDDP Scientific Team
[Ad] Address:Department of Earth Sciences, University of Geneva, Switzerland. Electronic address: camille.thomas@unige.ch.
[Ti] Title:Archaeal populations in two distinct sedimentary facies of the subsurface of the Dead Sea.
[So] Source:Mar Genomics;17:53-62, 2014 Oct.
[Is] ISSN:1876-7478
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Archaeal metabolism was studied in aragonitic and gypsum facies of the Dead Sea subsurface using high-throughput DNA sequencing. We show that the communities are well adapted to the peculiar environment of the Dead Sea subsurface. They harbor the necessary genes to deal with osmotic pressure using high- and low-salt-in strategies, and to cope with unusually high concentrations of heavy metals. Methanogenesis was identified for the first time in the Dead Sea and appears to be an important metabolism in the aragonite sediment. Fermentation of residual organic matter, probably performed by some members of the Halobacteria class is common to both types of sediments. The latter group represents more than 95% of the taxonomically identifiable Archaea in the metagenome of the gypsum sediment. The potential for sulfur reduction has also been revealed and is associated in the sediment with EPS degradation and Fe-S mineralization as revealed by SEM imaging. Overall, we show that distinct communities of Archaea are associated with the two different facies of the Dead Sea, and are adapted to the harsh chemistry of its subsurface, in different ways.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1412
[Js] Journal subset:IM
[St] Status:In-Data-Review

  3 / 5407 MEDLINE  
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[PMID]: 25247785
[Au] Autor:Anik A; Kersseboom S; Demir K; Catli G; Yis U; Böber E; van Mullem A; van Herebeek RE; Hiz S; Abaci A; Visser TJ
[Ad] Address:Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.
[Ti] Title:Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.
[So] Source:Horm Res Paediatr;82(4):261-71, 2014.
[Is] ISSN:1663-2826
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIMS: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. CASE REPORT AND RESULTS: We describe 4 males with AHDS from two unrelated families varying in age from 1.5 to 11 years. All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels. Comparison of patients at different ages suggests the progressive nature of AHDS. Genetic analyses identified a novel missense MCT8 mutation (p.G495A) in family 1 and a 2.8-kb deletion comprising exons 3 and 4 in family 2. Functional analysis of p.G495A revealed impaired TH transport varying from 20 to 85% depending on the cell context. CONCLUSION: Here we report 4 AHDS patients in unrelated Turkish families harboring novel MCT8 mutations. Despite the widely different mutations, the clinical phenotypes are very similar and findings support the progressive nature of AHDS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1410
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1159/000365191

  4 / 5407 MEDLINE  
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[PMID]: 25296029
[Au] Autor:Schratzberger M; Larcombe P
[Ad] Address:Centre for Environment, Fisheries and Aquaculture Science, Lowestoft Laboratory, Lowestoft, Suffolk, United Kingdom.
[Ti] Title:The role of the sedimentary regime in shaping the distribution of subtidal sandbank environments and the associated meiofaunal nematode communities: an example from the southern North Sea.
[So] Source:PLoS One;9(10):e109445, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We combined sediment and faunal data to explore the role of the sedimentary regime in shaping the distribution of subtidal sandbank environments and the associated meiofaunal nematode communities at Broken Bank and Swarte Bank, in the southern North Sea. A variety of sediment transport processes occur in the area, differing in the frequency and magnitude of sediment mobility, and the continuum between erosion, translation and sediment accumulation. The seabed contained a variety of bedforms, including longitudinal furrows, and small to very large sandwaves. The bed sediments were dominated by fine and medium sands, with admixtures of silt and gravel. Based on sedimentary bedforms and grain size analysis, a total of 11 sedimentary facies were delineated, of which 8 were analysed in detail for their relationships with the meiofauna. The sedimentary facies fell clearly into groups of facies, respectively representing high, high-moderate and moderate, and episodic sediment mobility. For those sedimentary facies where daily movement of sediments and bedforms occurred ('high' sediment mobility), the resulting spatially homogeneous environments were dominated by an impoverished nematode community comprising small deposit feeders and large predators. Resistance to sediment movement and the ability to exploit alternative food sources were prominent functional features of the successful colonisers. Those facies characterised by relatively infrequent sediment mobility ('episodic' and 'high-moderate and moderate' sediment mobility) comprised a heterogeneous suite of benthic habitats, containing taxonomically and functionally diverse assemblages of nematodes of various sizes, feeding types and reproductive potential. Faunal distribution patterns here indicated trade-offs between the resistance to sediment movement, environmental tolerance and competitive abilities. Our focus on diverse assemblages of organisms with high turnover times, inhabiting highly dynamic sedimentary environments, has revealed new animal-sediment relationships of relevance to pure and applied science.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1410
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1371/journal.pone.0109445

  5 / 5407 MEDLINE  
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[PMID]: 24135799
[Au] Autor:Bayram O; Sebahat AY; Kadir A; Ali K
[Ad] Address:Division of Pediatric Endocrinology, School of Medicine, Pamukkale University, Denizli, Turkey, bayramozhan@yahoo.com.
[Ti] Title:A rare cause of short stature: transsphenoidal encephalocele.
[So] Source:Eur J Pediatr;173(12):1611-3, 2014 Dec.
[Is] ISSN:1432-1076
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Basal encephaloceles are rare, accounting for about 1.5 % of all encephaloceles. Transsphenoidal encephaloceles represent less than 5 % of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1411
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s00431-013-2175-4

  6 / 5407 MEDLINE  
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[PMID]: 24403048
[Au] Autor:Kaiser FJ; Ansari M; Braunholz D; Concepción Gil-Rodríguez M; Decroos C; Wilde JJ; Fincher CT; Kaur M; Bando M; Amor DJ; Atwal PS; Bahlo M; Bowman CM; Bradley JJ; Brunner HG; Clark D; Del Campo M; Di Donato N; Diakumis P; Dubbs H; Dyment DA; Eckhold J; Ernst S; Ferreira JC; Francey LJ; Gehlken U; Guillén-Navarro E; Gyftodimou Y; Hall BD; Hennekam R; Hudgins L; Hullings M; Hunter JM; Yntema H; Innes AM; Kline AD; Krumina Z; Lee H; Leppig K; Lynch SA; Mallozzi MB; Mannini L; McKee S; Mehta SG; Micule I; Mohammed S; Moran E; Mortier GR; Moser JA; Noon SE; Care4Rare Canada Consortium; University of Washington Center for Mendelian Genomics
[Ad] Address:Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.
[Ti] Title:Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
[So] Source:Hum Mol Genet;23(11):2888-900, 2014 Jun 1.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1405
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1093/hmg/ddu002

  7 / 5407 MEDLINE  
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[PMID]: 25345091
[Au] Autor:Wraith JE; Jones S
[Ti] Title:Mucopolysaccharidosis type I.
[So] Source:Pediatr Endocrinol Rev;12 Suppl 1:102-6, 2014 Sep.
[Is] ISSN:1565-4753
[Cp] Country of publication:Israel
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hurler disease (HPS I H) a chronic disease without CNS disease Scheie disease (HPS I S5) and the intermediate Hurler/Scheie disease(HPS I HIS).The urine GAGs pattern. confirmed by Iduronidase enzyme assay is diagnostic. Over 200 mutations exist. Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) is seen in severe variants of MPS I. The hypoplastic odontoid putting these patients at high risk of cervical cord damage. MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . Progressive upper airway disease leads to obstructive sleep apnoea. Corneal clouding and cognitive impairment appears, growth ceases. Joint stiffness and contractures limit mobility. Cardiac disease is universal. Death occurs before 10 years. SCHEIE patients are diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding . Prolonged survival with considerable disability without cognitive impairment is usual. MPS IH/S Hurler/Scheie. is diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement. Joint stiffness, corneal clouding, , umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Patients die in their 20s .Haematopoietic stem cell transplantation (HSCT) the standard treatment of MPS IH for 30 years is unpredictable .When performed before 2 years it can stabilize cognitive impairment. Hepatosplenomegaly, urine GAGs excretion, upper airways obstruction and cardiomyopathy improve . The coarse hair and facial features soften and corneas partly clear,but dysostosis multiplex and cervical instability are not improved. Enzyme replacement therapy (ERT) in patients with MPS IH is associated with improved GAG excretion, left ventricular hypertrophy,sleep studies and liver size. The standard treatment of MPS IHIS and MIPS IS is ERT a-L-Iduronidase, laronidase, a life-long therapy. GAG excretion is reduced, respiratory function and physical endurance improve. Joint mobility improves but not dural thickening, cardiac valve lesions or eye changes. MPS I mice have been successfully treated with IDUA-expressing mesenchymaf stem cells . Gene therapy may be developed for MPS I, via an ex vivo approach demonstrated to improve even skeletal outcomes in animal models.
[Mh] MeSH terms primary: Hematopoietic Stem Cell Transplantation
Mucopolysaccharidosis I/diagnosis
Mucopolysaccharidosis I/therapy
[Mh] MeSH terms secundary: Combined Modality Therapy
Enzyme Replacement Therapy
Humans
Iduronidase/therapeutic use
Mucopolysaccharidosis I/drug therapy
Mucopolysaccharidosis I/surgery
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:EC 3.2.1.76 (Iduronidase)
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:141027
[St] Status:MEDLINE

  8 / 5407 MEDLINE  
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[PMID]: 24739649
[Au] Autor:Resende C; Carvalho C; Alegria A; Oliveira D; Quelhas D; Bandeira A; Proença E
[Ad] Address:NICU, Júlio Dinis Maternity, Oporto Medical Center, Oporto, Portugal.
[Ti] Title:Congenital disorders of glycosylation with neonatal presentation.
[So] Source:BMJ Case Rep;2014, 2014.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic cardiomyopathy occurred. Metabolic study revealed a CDG disturbance, which was confirmed by genetic study. The following mutations were identified: c.193G>T; p.D65Y and c.470T>C; p.F157S. Clinical deterioration was inevitable with multisystemic failure and death. CDG represents a challenge for physicians due to multiple organ involvement, and heterogeneous clinical manifestations. The neonatal form is usually associated with the worst prognosis.
[Mh] MeSH terms primary: Cardiomyopathy, Hypertrophic/ultrasonography
Cerebellum/abnormalities
Congenital Disorders of Glycosylation/diagnosis
Nervous System Malformations/diagnosis
Phosphotransferases (Phosphomutases)/deficiency
[Mh] MeSH terms secundary: Cardiomyopathy, Hypertrophic/etiology
Congenital Disorders of Glycosylation/complications
Congenital Disorders of Glycosylation/genetics
Developmental Disabilities/diagnosis
Developmental Disabilities/etiology
Echocardiography
Humans
Infant, Newborn
Magnetic Resonance Spectroscopy
Male
Mutation
Nervous System Malformations/etiology
Phosphotransferases (Phosphomutases)/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 5.4.2.- (Phosphotransferases (Phosphomutases)); EC 5.4.2.8 (phosphomannomutase 2, human)
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:140417
[St] Status:MEDLINE

  9 / 5407 MEDLINE  
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[PMID]: 24594523
[Au] Autor:Powis L; Oliver C
[Ad] Address:The Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham B15 2TT, UK.
[Ti] Title:The prevalence of aggression in genetic syndromes: a review.
[So] Source:Res Dev Disabil;35(5):1051-71, 2014 May.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Research into behavioural phenotypes identifies both environmental and organic factors as influencing aggression in children and adults with genetic disorders associated with intellectual disability. However, in contrast to self-injury there is a paucity of research that compares aggression across relevant syndromes. The primary aim of this review is to examine the association between aggression and genetic syndromes by analysis of prevalence studies. The review also examines the literature on the form of the behaviour and influence of environmental factors. Results imply that certain syndrome groups (Cri du Chat, Smith-Magenis, Prader-Willi, Angelman, Cornelia de Lange, and Fragile X syndromes; estimates over 70%) evidence a stronger association with aggression than others (e.g. Williams and Down syndromes; estimates below 15%). However, the strength of association is difficult to quantify due to methodological differences between studies. The results from examining form and environmental influences highlight the importance of phenotype-environment interactions. Research employing group comparison designs is warranted and future work on the assessment and intervention of aggression in genetic syndromes should consider the importance of phenotype-environment interactions.
[Mh] MeSH terms primary: Aggression/psychology
Chromosome Disorders/psychology
[Mh] MeSH terms secundary: Angelman Syndrome/psychology
Cri-du-Chat Syndrome/psychology
De Lange Syndrome/psychology
Down Syndrome/psychology
Fragile X Syndrome/psychology
Humans
Phenotype
Prader-Willi Syndrome/psychology
Smith-Magenis Syndrome/psychology
Williams Syndrome/psychology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:140331
[St] Status:MEDLINE

  10 / 5407 MEDLINE  
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[PMID]: 23963300
[Au] Autor:Andersen EF; Carey JC; Earl DL; Corzo D; Suttie M; Hammond P; South ST
[Ad] Address:1] Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT, USA [2] Department of Pathology, University of Utah, Salt Lake City, UT, USA....
[Ti] Title:Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
[So] Source:Eur J Hum Genet;22(4):464-70, 2014 Apr.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Wolf-Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. Genotype-phenotype correlation studies indicated that the loss of genes within 4p16.3 is necessary for expression of the core features of the phenotype. Within this region, haploinsufficiency of the genes WHSC1 and LETM1 is thought to be a major contributor to the pathogenesis of WHS. We present clinical findings for three patients with relatively small (<400 kb) de novo interstitial deletions that overlap WHSC1 and LETM1. 3D facial analysis was performed for two of these patients. Based on our findings, we propose that hemizygosity of WHSC1 and LETM1 is associated with a clinical phenotype characterized by growth deficiency, feeding difficulties, and motor and speech delays. The deletion of additional genes nearby WHSC1 and LETM1 does not result in a marked increase in the severity of clinical features, arguing against their haploinsufficiency. The absence of seizures and typical WHS craniofacial findings in our cohort suggest that deletion of distinct or additional 4p16.3 genes is necessary for expression of these features. Altogether, these results show that although loss-of-function for WHSC1 and/or LETM1 contributes to some of the features of WHS, deletion of additional genes is required for the full expression of the phenotype, providing further support that WHS is a contiguous gene deletion disorder.
[Mh] MeSH terms primary: Calcium-Binding Proteins/genetics
Chromosomes, Human, Pair 4/genetics
Histone-Lysine N-Methyltransferase/genetics
Membrane Proteins/genetics
Repressor Proteins/genetics
Wolf-Hirschhorn Syndrome/genetics
[Mh] MeSH terms secundary: Child
Child, Preschool
Female
Genome-Wide Association Study
Humans
Image Processing, Computer-Assisted
Male
Phenotype
Sequence Deletion
Wolf-Hirschhorn Syndrome/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Calcium-Binding Proteins); 0 (LETM1 protein, human); 0 (Membrane Proteins); 0 (Repressor Proteins); EC 2.1.1.43 (Histone-Lysine N-Methyltransferase); EC 2.1.1.43 (WHSC1 protein, human)
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:140313
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2013.192


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