Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives

Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive condition affecting around 1:15,000. In people with PCD, microscopic motile cilia do not move normally resulting in impaired clearance of mucus and debris leading to repeated sinopulmonary infection. If diagnosis is delayed, per...

Descripción completa

Detalles Bibliográficos
Autores principales: Collins, Samuel A., Walker, Woolf T., Lucas, Jane S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449687/
https://www.ncbi.nlm.nih.gov/pubmed/26237387
http://dx.doi.org/10.3390/jcm3020491

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449687/
https://www.ncbi.nlm.nih.gov/pubmed/26237387
http://dx.doi.org/10.3390/jcm3020491

Ejemplares similares