Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
نویسندگان
چکیده
منابع مشابه
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related to the defect in cell proliferation of chondrocytes in growth plate. In the current study, we aimed at identifying the molecular basis of two patients with primordial dwarfism (PD...
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Case presentation A 5-year-9month old Chinese girl presented with severe growth retardation, height SDS -4.17 and body weight SDS -2.37. The mid-parental height was 151.2cm (3-10 centile). She was born small for gestational age with no catch-up growth. Congenital anomalies including right dysplastic kidney and large secundum atrial septal defect were present. She had delayed development with mi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2012
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.06.003