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Article

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

European journal of medical genetics - 1 Jan 2000

Stattin Eva-Lena, Lindén Bjarne, Lönnerholm Torsten, Schuster Jens, Dahl Niklas

Abstract excerpt

Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. The condition is caused by heterozygous mutations in the Indian hedgehog (IHH) gene or a yet unidentified gene on chromosome 5p13. We investigated six affected members of...

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Source

Identifiers

PMID: 19464397
DOI: 10.1016/j.ejmg.2009.05.008

Genes

IHH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19464397-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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