Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It...

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Detalles Bibliográficos
Autores principales: Andjelkovic, Marina, Minic, Predrag, Vreca, Misa, Stojiljkovic, Maja, Skakic, Anita, Sovtic, Aleksandar, Rodic, Milan, Skodric-Trifunovic, Vesna, Maric, Nina, Visekruna, Jelena, Spasovski, Vesna, Pavlovic, Sonja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177184/
https://www.ncbi.nlm.nih.gov/pubmed/30300419
http://dx.doi.org/10.1371/journal.pone.0205422

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