The Genetics of Primary Ciliary Dyskinesia in Puerto Rico

Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic gr...

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Detalles Bibliográficos
Autores principales: De Jesús-Rojas, Wilfredo, Muñiz-Hernández, José, Alvarado-Huerta, Francisco, Meléndez-Montañez, Jesús M., Santos-López, Arnaldo J., Mosquera, Ricardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139572/
https://www.ncbi.nlm.nih.gov/pubmed/35626283
http://dx.doi.org/10.3390/diagnostics12051127

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