Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

BACKGROUND: Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The intr...

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Detalles Bibliográficos
Autores principales: Jaworska, Joanna, Marach-Mocarska, Aleksandra, Sands, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055720/
https://www.ncbi.nlm.nih.gov/pubmed/32103733
http://dx.doi.org/10.1186/s12887-020-1980-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055720/
https://www.ncbi.nlm.nih.gov/pubmed/32103733
http://dx.doi.org/10.1186/s12887-020-1980-y

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