Article
Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2022
Lex Christiane, Minso Rebecca, Alfeis Nadine, Rosewich Hendrik, Schucht Sylvia, Tümmler Burkhard
Abstract excerpt
A non-consanguineous two-generation family of parent and monozygous twins who all three share the same CFTR mutation genotype p.Phe508del / p.Arg117His, was examined in clinical features, sweat test, nasal potential difference and intestinal current measurements. As expected the twins were very much alike in anthropometry and appearance and shared the clinical manifestation of CFTR dysfunction albeit at different...
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