Article
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Clinical genetics - 1 Jan 2015
Roifman M, Marcelis C L M, Paton T, Marshall C, Silver R, Lohr J L, Yntema H G, Venselaar H, Kayserili H, van Bon B, Seaward G, Brunner H G, Chitayat D
Abstract excerpt
Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritanc...
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