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Article

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

American journal of human genetics - 1 May 2009

Dagoneau Nathalie, Goulet Marie, Geneviève David, Sznajer Yves, Martinovic Jelena, Smithson Sarah, Huber Céline, Baujat Geneviève, Flori Elisabeth, Tecco Laura, Cavalcanti Denise, Delezoide Anne-Lise, Serre Valérie, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Jeune asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow thorax, short long bones, inconstant polydactyly, and trident acetabular roof. ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and lethality and variable malformations. We first...

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Identifiers

PMID: 19442771
DOI: 10.1016/j.ajhg.2009.04.016
PMCID: PMC2681009

Genes

IFT80

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Source receipt: pubmed, retrieved 7 Sept 2026.

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.PMID 19442771Read ↗

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