Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all V...

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Detalles Bibliográficos
Autores principales: Kos, Renate, Israëls, Joël, van Gogh, Christine D. L., Altenburg, Josje, Diepenhorst, Sandra, Paff, Tamara, Boon, Elles M. J., Micha, Dimitra, Pals, Gerard, Neerincx, Anne H., Maitland‐van der Zee, Anke H., Haarman, Eric G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314105/
https://www.ncbi.nlm.nih.gov/pubmed/35343062
http://dx.doi.org/10.1002/ajmg.c.31968

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