A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high su...

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Detalles Bibliográficos
Autores principales: Al Balushi, Said, Al Balushi, Younis, Al Busaidi, Moza, Al Mutawa, Latifa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: OMJ 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8019455/
https://www.ncbi.nlm.nih.gov/pubmed/33854794
http://dx.doi.org/10.5001/omj.2021.28

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8019455/
https://www.ncbi.nlm.nih.gov/pubmed/33854794
http://dx.doi.org/10.5001/omj.2021.28

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