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

Year: 2013
Type: article
DOI: 10.1016/j.ajhg.2013.10.007
Authors: Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire
Institutions: Hôpital Necker-Enfants Malades, Inserm, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine, Université Paris Descartes, University of California, Los Angeles, Assistance Publique Hôpitaux de Marseille, Hôpital de la Timone, Cedars-Sinai Medical Center
Language: English
Subfield: Genetics
Open Access status: bronze
Funders: Agence Nationale de la Recherche, Assistance publique-Hôpitaux de Paris, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Dental and Craniofacial Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G199406178, The Skeletal Dysplasias, Exome sequencing in the skeletal dysplasias, Institut Hospitalo-Universitaire Imagine, Short-rib polydactyly and the skeletal ciliopathies, G9000132932
OpenAlex ID: W2018743030
FWCI: 7.963
Cites: 19
Cited by: 85
Related to: 10