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

Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, muta...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824112/
https://ncbi.nlm.nih.gov/pubmed/24183449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.007
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