Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation

Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorithms that include electron microscopy, genetics, and...

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Detalles Bibliográficos
Autores principales: De Jesús-Rojas, Wilfredo, Reyes-De Jesús, Dalilah, Mosquera, Ricardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918725/
https://www.ncbi.nlm.nih.gov/pubmed/33670432
http://dx.doi.org/10.3390/diagnostics11020281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918725/
https://www.ncbi.nlm.nih.gov/pubmed/33670432
http://dx.doi.org/10.3390/diagnostics11020281

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