Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PloS one - 1 Jan 2023
Neřoldová Magdaléna, Ciara Elżbieta, Slatinská Janka, Fraňková Soňa, Lišková Petra, Kotalová Radana, Globinovská Janka, Šafaříková Markéta, Pfeiferová Lucie, Zůnová Hana, Mrázová Lenka, Stránecký Viktor, Vrbacká Alena, Fabián Ondřej, Sticová Eva, Skanderová Daniela, Šperl Jan, Kalousová Marta, Zima Tomáš, Macek Milan, Pawlowska Joanna, Knisely A S, Kmoch Stanislav, Jirsa Milan
Abstract excerpt
BACKGROUND AND AIM: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis. PATIENTS AND METHODS: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible. WES was used for reassessment of 34 patients (23 children) without...
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