Article
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
Human molecular genetics - 15 Jun 2015
Saal Howard M, Prows Cynthia A, Guerreiro Iris, Donlin Milene, Knudson Luke, Sund Kristen L, Chang Ching-Fang, Brugmann Samantha A, Stottmann Rolf W
Abstract excerpt
Autosomal dominant omodysplasia is a rare skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. We performed next-generation whole-exome sequencing and comparative analysis of a proband with omodysplasia, her unaffected parents and her affected daughter. We identified a de novo mutation in FRIZZLED2 (FZD2) in the proband...
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