Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/71368
Citations
Scopus Web of Science® Altmetric
?
?
Type: Journal article
Title: Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
Author: Nagy, R.
Wang, H.
Albrecht, B.
Wieczorek, D.
Gillessen-Kaesbach, G.
Haan, E.
Meinecke, P.
de la Chapelle, A.
Westman, J.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 2012; 82(2):140-146
Publisher: Wiley-Blackwell Publishing Inc
Issue Date: 2012
ISSN: 1399-0004
1399-0004
Statement of
Responsibility: 
R. Nagy, H. Wang, B. Albrecht, D. Wieczorek, G. Gillessen-Kaesbach, E. Haan, P. Meinecke, A. de la Chapelle and J.A. Westman
Abstract: Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene.
Keywords: MOPD I
RNU4ATAC
small nuclear RNA
Taybi-Linder Syndrome
U4atac
Rights: © 2011 John Wiley & Sons
DOI: 10.1111/j.1399-0004.2011.01756.x
Appears in Collections:Aurora harvest
Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.