Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.

Abstract excerpt

Robinow syndrome is a rare genetic disorder characterized by distinct craniofacial dysmorphism, mesomelic limb shortening and genital hypoplasia. The disorder has been reported to be inherited in an autosomal dominant as well as recessive patterns with a prevalence of 1:500000. In this study, we aimed to identify the genetic basis and structural consequences of disease in a clinically diagnosed case. A 3-months...

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