CCATClinical Analysis Tool
‹ Knowledge base

Browse the corpus

Walk the evidence base by book and chapter — the raw source passages that ground Ask, Differential, and the rest.

1 passage

abstractpubmed· Abstract 2017· item PMID:30805499

The first case report of double homozygous of 2 different mutations in the The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.