Recent advances in primary ciliary dyskinesia genetics

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructur...

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Detalles Bibliográficos
Autores principales: Kurkowiak, Małgorzata, Ziętkiewicz, Ewa, Witt, Michał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285891/
https://www.ncbi.nlm.nih.gov/pubmed/25351953
http://dx.doi.org/10.1136/jmedgenet-2014-102755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285891/
https://www.ncbi.nlm.nih.gov/pubmed/25351953
http://dx.doi.org/10.1136/jmedgenet-2014-102755

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