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Article

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Human mutation - 1 Jul 2003

Afzal Ali R, Jeffery Steve

Abstract excerpt

Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9q22 and homozygous loss-of-function mutations in this gene are responsible for RRS. Moreover, knocking out the mouse...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12815588
DOI: 10.1002/humu.10233

Genes

ROR2

Provenance

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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One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.PMID 12815588Read ↗

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.Semantic proximity Read ↗

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.Semantic proximity Read ↗

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A new mutation in the gene ROR2 causes brachydactyly type B1.Semantic proximity Read ↗

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The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.Semantic proximity Read ↗

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