Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

BACKGROUND: Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because of the extensive phenotypic heterogeneity and the high number of CFTR variants, including their combinations as complex alleles. RESULTS: We report a family w...

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Detalles Bibliográficos
Autores principales: Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184661/
https://www.ncbi.nlm.nih.gov/pubmed/35348309
http://dx.doi.org/10.1002/mgg3.1926

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