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Article

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Nature genetics - 1 Mar 2000

Oldridge M, Fortuna A M, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara T M, Kimble R B, Valenzuela D M, Yancopoulos G D, Wilkie A O

Abstract excerpt

Inherited limb malformations provide a valuable resource for the identification of genes involved in limb development. Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies and characterized by terminal deficiency of the fingers and toes. In the typ...

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Source

Identifiers

PMID: 10700182
DOI: 10.1038/73495

Genes

ROR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10700182-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.PMID 10700182Read ↗

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

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

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ROR-Family Receptor Tyrosine Kinases.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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