Open AccessThe importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
Author(s) -
Hinzpeter Alexandre,
Reboul MariePierre,
Callebaut Isabelle,
Zordan Cécile,
Costes Bruno,
Guichoux Julie,
Iron Albert,
Lacombe Didier,
Martin Natacha,
Arveiler Benoit,
Fanen Pascale,
Fergelot Patricia,
Girodon Emmanuelle
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.760
Subject(s) - medicine , phenotype , genotype , correlation , genotype phenotype distinction , genetic testing , bioinformatics , genetics , gene , biology , geometry , mathematics
Key Clinical Message In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns.