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Article

Brachydactyly type A1 with short humerus and associated skeletal features.

American journal of medical genetics. Part A - 1 Dec 2010

Lacombe Didier, Delrue Marie-Ange, Rooryck Caroline, Morice-Picard Fanny, Arveiler Benoît, Maugey-Laulom Brigitte, Mundlos Stefan, Toutain Annick, Chateil Jean-François

Abstract excerpt

We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not...

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Source

Identifiers

PMID: 21077205
DOI: 10.1002/ajmg.a.33761

Genes

GDF5
IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21077205-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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