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Article

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

American journal of human genetics - 1 Oct 2000

Schwabe G C, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie A O, Kömec R, Mundlos S

Abstract excerpt

Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, located within a distinct segment directly after the TK domain, have been shown to be responsible for BDB. We report four novel mutations in ROR2 (two frameshifts, one splice mutation, and one...

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Source

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Identifiers

PMID: 10986040
DOI: 10.1086/303084
PMCID: PMC1287887

Genes

ROR2

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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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