Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. PCD is genetically and phenotypically heterogeneous, with causative mutations identified in over 40 genes; however, the genetic basis of many cases is unkn...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Bustamante-Marin, Ximena M., Shapiro, Adam, Sears, Patrick R., Charng, Wu-Lin, Conrad, Donald F., Leigh, Margaret W., Knowles, Michael R., Ostrowski, Lawrence E., Zariwala, Maimoona A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6920546/
https://ncbi.nlm.nih.gov/pubmed/31636325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0686-1
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