A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

Abstract

We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits… (More)
DOI: 10.1159/000479721

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