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Article

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.

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

Birgmeier Johannes, Esplin Edward D, Jagadeesh Karthik A, Guturu Harendra, Wenger Aaron M, Chaib Hassan, Buckingham Julia A, Bejerano Gill, Bernstein Jonathan A

Abstract excerpt

Robinow syndrome (RS) is a well-recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in ROR2 while dominant inheritance has been observed for mutations in WNT5A, DVL1, and DVL3. Through trio whole genome...

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Source

Identifiers

PMID: 29575631
DOI: 10.1002/ajmg.a.38636

Genes

DVL1
DVL3
ROR2

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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