DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III-Reference-Cited by-同舟云学术

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Published:2009-05 Issue:5 Volume:84 Page:706-711
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nat. Genet.,2007

2. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13;Morgan;J. Med. Genet.,2003

3. Nosology and classification of genetic skeletal disorders: 2006 revision;Superti-Furga;Am. J. Med. Genet.,2007

4. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder;Ho;Am. J. Med. Genet.,2000

5. Genetic analysis of the cytoplasmic dynein subunit families;Pfister;PLoS Genet.,2006

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