Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
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DOI: 10.1002/mgg3.1926
Abstract: 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… read more here.
Keywords: cystic fibrosis; things come; diagnosis; come threes ... See more keywords