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Article

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.

American journal of medical genetics. Part A - 15 Aug 2008

Lodder E M, Hoogeboom A J M, Coert J H, de Graaff E

Abstract excerpt

Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule invo...

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Share to Hand Deformities, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18629882
DOI: 10.1002/ajmg.a.32441

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18629882-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.PMID 18629882Read ↗

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.Semantic proximity Read ↗

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

A novel variant of IHH in a Chinese family with brachydactyly type 1Semantic proximity Read ↗

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1.Semantic proximity Read ↗

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.Semantic proximity Read ↗

Brachydactyly type A1 with short humerus and associated skeletal features.Semantic proximity Read ↗

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

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Semantic proximity Read ↗

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.Semantic proximity Read ↗

Answering a century old riddle: brachydactyly type A1.Semantic proximity Read ↗

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.Semantic proximity Read ↗

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