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Article

Mutation screening in candidate genes in four Chinese brachydactyly families.

Annals of clinical and laboratory science - 1 Jan 2015

Dong Sufang, Wang Yinghui, Tao Shengxiang, Zheng Fang

Abstract excerpt

Autosomal dominant brachydactyly (BD) is a skeletal disorder with several subtypes, including brachydactyly type A1 (BDA1) and brachydactyly type B1 (BDB1). Mutations in Indian hedgehog (IHH) are usually associated with BDA1, whereas heterozygous mutations in receptor tyrosine kinase-like orphan receptor 2 (ROR2) are mainly responsible for BDB1. On the basis of the clinical phenotype identification, we screened...

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Source

Identifiers

PMID: 25696018

Genes

IHH
ROR2

Variants

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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