Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
复制标题
RNU4ATAC基因中具有双重突变的微脑骨突出原始矮型I型I型。
DOI：
10.1111/j.1399-0004.2011.01756.x
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发表时间：
2012-08
影响因子：
3.5
通讯作者：
Westman JA
中科院分区：
文献类型：
--
作者：
Nagy R;Wang H;Albrecht B;Wieczorek D;Gillessen-Kaesbach G;Haan E;Meinecke P;de la Chapelle A;Westman JA
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.
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影响因子：
30.8
作者：
通讯作者：
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影响因子：
1.4
作者：
Klinge, L;Schaper, J;Voit, T
通讯作者：
Voit, T
影响因子：
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作者：
Cao H;Wu J;Lam S;Duan R;Newnham C;Molday RS;Graziotto JJ;Pierce EA;Hu J
通讯作者：
Hu J
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30.8
作者：
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通讯作者：
Samuels, Mark E.
影响因子：
56.9
作者：
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通讯作者：
Leutenegger, Anne-Louise