نتایج جستجو برای: dominant mutation

تعداد نتایج: 404478  

Journal: :genetics in the 3rd millennium 0
parva namiranian mehrvash shams alain verloes ariana kariminejad

fryns-aftimos syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. we describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal problems (short stature, short fingers, flat feet) and mild intellectual...

Journal: :Journal of Clinical Endocrinology & Metabolism 2002

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