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Article

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

American journal of medical genetics. Part A - 1 Dec 2021

Zhang Chaofan, Mazzeu Juliana F, Eisfeldt Jesper, Grochowski Christopher M, White Janson, Akdemir Zeynep C, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lindstrand Anna, Lupski James R, Sutton V Reid, Carvalho Claudia M B

Abstract excerpt

Robinow syndrome (RS) is a genetically heterogeneous disorder characterized by skeletal dysplasia and a distinctive facial appearance. Previous studies have revealed locus heterogeneity with rare variants in DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A underlying the etiology of RS. The aforementioned "Robinow-associated genes" and their gene products all play a role in the WNT/planar cell polarity signaling pathway....

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Identifiers

PMID: 33048444
DOI: 10.1002/ajmg.a.61908
PMCID: PMC8445516

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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