Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype

Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncer...

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Detalles Bibliográficos
Autores principales: Staar, Ben O., Hegermann, Jan, Auber, Bernd, Ewen, Raphael, von Hardenberg, Sandra, Olmer, Ruth, Pink, Isabell, Rademacher, Jessica, Wetzke, Martin, Ringshausen, Felix C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670349/
https://www.ncbi.nlm.nih.gov/pubmed/37998386
http://dx.doi.org/10.3390/cells12222651

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