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Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis
Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. We describe a case of an 18‐year‐old man with p.F508del/p.Arg117His(7T) initially presenting with CRMS/CFSPID. He went on...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley & Sons, Ltd
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9772395/ https://www.ncbi.nlm.nih.gov/pubmed/36569635 http://dx.doi.org/10.1002/rcr2.1079 |