Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Nagy, Rebecca, Wang, Heng, Albrecht, Beate, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Haan, Eric, Meinecke, Peter, de la Chapelle, Albert, Westman, Judith A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3816635/
https://ncbi.nlm.nih.gov/pubmed/21815888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01756.x
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