Article
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Molecular genetics & genomic medicine - 1 Jun 2022
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
Abstract excerpt
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 with a complicated syndromic phenotype, which led to the suspicion not only of CF, but of a dominantly inherited...
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