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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| 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 |