Variability of Clinical Presentation in Patients Heterozygous for the F508del Cystic Fibrosis Variant: A Series of Three Cases and a Review of the Literature

Cystic fibrosis (CF) is a genetic disease that affects the lung, pancreas, and other organs caused by the presence of biallelic CF-causing variants in the cystic fibrosis conductance regular gene (CFTR). CFTR variants can also be found in CFTR-related disorders (CFTR-RD), which present milder sympto...

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Detalles Bibliográficos
Autores principales: Raymond, Caitlin M, Gaul, Simon P, Han, Song, Huang, Gengming, Dong, Jianli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329848/
https://www.ncbi.nlm.nih.gov/pubmed/37431359
http://dx.doi.org/10.7759/cureus.40185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329848/
https://www.ncbi.nlm.nih.gov/pubmed/37431359
http://dx.doi.org/10.7759/cureus.40185

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