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Article

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Journal of human genetics - 1 Jan 2006

Liu Mugen, Wang Xu, Cai Zhou, Tang Zhaohui, Cao Kangsheng, Liang Bo, Ren Xiang, Liu Jing Yu, Wang Qing K

Abstract excerpt

Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. In this study, a large five-generation Chinese family with BDA1 was identified and characterized. All affected family members demonstrated significant homogeneous phenotype and some unique clinical features different from those associated with the reported BDA1 mutations in IHH. Linkage analysis showed...

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Source

Identifiers

PMID: 16871364
DOI: 10.1007/s10038-006-0012-6

Genes

IHH

Variants

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 novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.PMID 16871364Read ↗

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