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Article

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

Nature genetics - 1 Aug 2000

Afzal A R, Rajab A, Fenske C D, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday V A, Patton M A, Wilkie A O, Jeffery S

Abstract excerpt

The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), a region that overlaps the locus for autosomal dominant brachydactyly type B (refs 5,6). The recent identification of ROR2,...

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Source

Identifiers

PMID: 10932186
DOI: 10.1038/78107

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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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.PMID 10932186Read ↗

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

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

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Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.Semantic proximity Read ↗

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