About: Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I

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scientific article published on 21 June 2013

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2013 (uk) article scientifique publié en 2013 (fr) im Juni 2013 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 21 June 2013 (en) artículu científicu espublizáu en xunu de 2013 (ast)
publication date	wds:Q57206938-4C307A50-E5AB-4A13-81FC-C128557DC41E
publication date	2013-06-21 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57206938-D44F67A4-8866-4561-B490-50BADE31C4AB
language of work or name	English
cites work	wds:Q57206938-0A631AF0-FDB7-42C5-ADF3-91AEB8AF6FAC wds:Q57206938-1EA1132E-C3A5-41E3-B02C-19C80990E8E0 wds:Q57206938-276CC044-1E74-46A3-A51A-5F2FC2AC65B2 wds:Q57206938-2AA4549B-782C-43CA-86D0-08CD6802270C wds:Q57206938-2EF94F54-589C-47A0-A38F-FDEBFA22275E wds:Q57206938-2FD93352-53C3-4EBA-BC02-2653AE515930 wds:Q57206938-304BE0B6-798C-43F0-A936-C036C9FE8F95 wds:Q57206938-4E57C420-B774-4FA9-B371-1C61903CAF67 wds:Q57206938-58091960-E078-4152-ACEF-84AE4BDCE71D wds:Q57206938-6869F07E-C50B-4FDB-876D-C4B90153ADF8 wds:Q57206938-B7B299CF-5A19-4086-8F16-79320B77DE32 wds:Q57206938-BBFE30AF-71D4-41AD-9191-0AF4770C787F wds:Q57206938-D43DAAE5-AB07-4B90-BE48-FE759F747F49 wds:Q57206938-E16CB093-57ED-471C-871A-A126C7E6D1C8 wds:Q57206938-FE38B8DE-E1CE-46F8-90C5-2DFA383F0D46
cites work	Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism
author name string	wds:Q57206938-4DB64BD6-DFE1-4D69-BA9B-00895FD885C6 wds:Q57206938-5B10DDDA-EA31-44E6-AA47-46B2BD7AB941 wds:Q57206938-C0BA189D-709A-4330-AA1B-0D17614E1FDC wds:Q57206938-D34B7786-980B-4D80-B2C8-931DE42ABFD8
author name string	Samira Ismail Laila Effat Mohamed S Abdel-Hamid Nihal A Hassan
rdfs:label	Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (en) Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (nl)
skos:prefLabel	Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (en) Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (nl)
name	Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (en) Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I (nl)
author	wds:Q57206938-05916576-8DFB-4C04-9004-298B77458A58 wds:Q57206938-4B2429BE-3746-462A-A0FF-92D4256B395E wds:Q57206938-D3A4097B-8C29-4A22-96ED-664B5A356DF8 wds:Q57206938-DD9A8649-B7DF-40E7-ADC5-70A9C87CCB3C
author	Maha Zaki Mona S Aglan Mahmoud Y Issa Ghada M Abdel-Salam
title	wds:Q57206938-7B4ED918-6811-44C2-B800-B39D7903656B
title	Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I (en)
page(s)	wds:Q57206938-8951F8B4-0D23-4ED4-97AE-FCF783A9CFDD
page(s)	1875-1881
instance of	wds:Q57206938-FAABBEC5-0F25-46B1-896D-CE77BAA30935
instance of	scholarly article
main subject	wds:Q57206938-4FEF916E-571E-43FA-A278-3BF89C33FF8E wds:Q57206938-C39C3E40-FAA3-4010-AF55-0A81AF3A36BF
main subject	microcephaly microcephalic osteodysplastic primordial dwarfism type I
PubMed ID	wds:Q57206938-C7B52B80-47F0-47B0-B795-33331E296BF4
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/23794361
PubMed ID	23794361
published in	wds:Q57206938-1993FD6B-C39B-45A7-9C5F-C4440B3B235B
published in	American Journal of Medical Genetics
issue	wds:Q57206938-08C97BD1-04E9-4C51-A903-D13A570EBEC7
volume	wds:Q57206938-7BC4393C-15EF-4383-A1EB-146A14B70F97
issue	8
volume	161A
DOI	wds:Q57206938-EBE14241-E776-4F84-B7E7-65F992FD540E
DOI	http://dx.doi.org/10.1002/AJMG.A.36009
DOI	10.1002/AJMG.A.36009
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57206938
is cites work of	Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Microcephalic osteodysplastic primordial dwarfism type 1. Biochemical defects in minor spliceosome function in the developmental disorder MOPD I. Lissencephaly: Expanded imaging and clinical classification. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism
is cites work of	wds:Q41924108-57BE2093-590B-4A22-997B-6BB61E9DE2DD wds:Q52578335-E64ECE95-BFF4-4326-A903-1550FF6BD351 wds:Q33967955-E5BFCC14-FD2A-4828-A00B-D39175AAFE99 wds:Q53327419-E74B8A7E-DE68-4F0F-A67D-44066D40F6B3 wds:Q34046561-34D3E138-A1FB-4182-BCEA-C14907C176DD

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