Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
American journal of medical genetics. Part A - 1 Nov 2011
Abdel-Salam Ghada M H, Miyake Noriko, Eid Maha M, Abdel-Hamid Mohamed S, Hassan Nihal A, Eid Ola M, Effat Laila K, El-Badry Tarek H, El-Kamah Ghada Y, El-Darouti Mohamed, Matsumoto Naomichi
Abstract excerpt
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth...
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