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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4016480/
https://ncbi.nlm.nih.gov/pubmed/24450482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-11
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