Article
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Journal of medical genetics - 1 Jun 2012
Blanchon Sylvain, Legendre Marie, Copin Bruno, Duquesnoy Philippe, Montantin Guy, Kott Esther, Dastot Florence, Jeanson Ludovic, Cachanado Marine, Rousseau Alexandra, Papon Jean François, Beydon Nicole, Brouard Jacques, Crestani Bruno, Deschildre Antoine, Désir Julie, Dollfus Hélène, Leheup Bruno, Tamalet Aline, Thumerelle Caroline, Vojtek Anne-Marie, Escalier Denise, Coste André, de Blic Jacques, Clément Annick, Escudier Estelle, Amselem Serge
Abstract excerpt
BACKGROUND: CCDC39 and CCDC40 genes have recently been implicated in primary ciliary dyskinesia (PCD) with inner dynein arm (IDA) defects and axonemal disorganisation; their contribution to the disease is, however, unknown. Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, this study screened a large cohort of patients with IDA defects, in whom clinical and ciliary phenotypes were...
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