Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

doi:10.1136/jmedgenet-2012-101282

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Article

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

Journal of medical genetics - 1 Feb 2013

Baujat Geneviève, Huber Céline, El Hokayem Joyce, Caumes Roseline, Do Ngoc Thanh Claire, David Albert, Delezoide Anne-Lise, Dieux-Coeslier Anne, Estournet Brigitte, Francannet Christine, Kayirangwa Honorine, Lacaille Florence, Le Bourgeois Muriel, Martinovic Jelena, Salomon Rémi, Sigaudy Sabine, Malan Valérie, Munnich Arnold, Le Merrer Martine, Le Quan Sang Kim Hanh, Cormier-Daire Valérie

Abstract excerpt

BACKGROUND: Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include polydactyly, renal, liver and retinal involvement. To date, mutations in IFT80, DYNC2H1, TTC21B and WDR19 have been reported in ATD. The clinical and molecular heterogeneity leads to difficulties in the...

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PMID: 23339108
DOI: 10.1136/jmedgenet-2012-101282

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IFT80

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