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Article

A new mutation in the gene ROR2 causes brachydactyly type B1.

Gene - 15 Aug 2014

Huang Dan, Jiang Shujuan, Zhang Yuanyuan, Liu Xiaoliang, Zhang Jiubin, He Rong

Abstract excerpt

Brachydactyly type B, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is caused by mutations in the receptor tyrosine kinase gene ROR2, which maps to chromosome 9q22, whereas BDB2 is caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Here, we...

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Identifiers

PMID: 24954533
DOI: 10.1016/j.gene.2014.06.035

Genes

ROR2

Provenance

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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A new mutation in the gene ROR2 causes brachydactyly type B1.PMID 24954533Read ↗

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

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

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.Semantic proximity Read ↗

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

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

Brachydactyly type B1: report of a family with de novo ROR2 mutation.Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].Semantic proximity Read ↗

[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].Semantic proximity Read ↗

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