Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the motil...

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Detalles Bibliográficos
Autores principales: Boon, Mieke, Smits, Anne, Cuppens, Harry, Jaspers, Martine, Proesmans, Marijke, Dupont, Lieven J, Vermeulen, Francois L, Van Daele, Sabine, Malfroot, Anne, Godding, Veronique, Jorissen, Mark, De Boeck, Kris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016480/
https://www.ncbi.nlm.nih.gov/pubmed/24450482
http://dx.doi.org/10.1186/1750-1172-9-11

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