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Article

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

American journal of medical genetics. Part A - 1 Mar 2018

Nagasaki Keisuke, Nishimura Gen, Kikuchi Toru, Nyuzuki Hiromi, Sasaki Sunao, Ogawa Yohei, Saitoh Akihiko

Abstract excerpt

Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a...

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Source

Identifiers

PMID: 29383834
DOI: 10.1002/ajmg.a.38623

Genes

FZD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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