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René Gérolami

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Open access Sep 2026

Heterozygous CFTR variants associated with low-phospholipid-associated cholelithiasis phenotypes expand hepatobiliary disorders spectrum.

Low-phospholipid-associated cholelithiasis (LPAC) syndrome is mainly associated with ABCB4 variants, although up to half of cases remain genetically unexplained. Given the role of CFTR in biliary homeostasis and its involvement in CFTR-related pancreatobiliary disorders, we investigated whether CFTR variants may contri...

Camille Giannetti, L. Carmarans, P. Bourgeois et al. · 0 citations

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