WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia-Reference-Cited by-同舟云学术

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Published:2013-11 Issue:5 Volume:93 Page:926-931
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Huber Céline,Wu Sulin,Kim Ashley S.,Sigaudy Sabine,Sarukhanov Anna,Serre Valérie,Baujat Genevieve,Le Quan Sang Kim-Hanh,Rimoin David L.,Cohn Daniel H.,Munnich Arnold,Krakow Deborah,Cormier-Daire Valérie

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

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

2. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am. J. Med. Genet. A.,2011

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

4. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum;Cavalcanti;J. Med. Genet.,2011

5. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am. J. Hum. Genet.,2009

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