Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene

Journal of Human Genetics 2026

View at publisher
Authors: Гусарова Елена Александровна, А. V. Degtyareva, Alla E. Lavrova, Т.В. Строкова, Natalia A. Semenova, Еkaterina Nuzhnaya, Marina S. Gautier, Elena A. Filippova, Jekaterina Shubina, M. Kh. Isaeva, Eleonora Annenkova, Victoria Y. Bezverbnaya
+5 more Yana D. Nazarenko, Ekaterina Yu. Konovalova, Elena Yu. Borisova, Марахонов Андрей Владимирович, Ekaterina Y Zakharova
DOI: 10.1038/s10038-026-01462-1
Cited by: 0
References: 21

Fields of Study & Subjects

Pediatric Hepatobiliary Diseases and Treatments Genomics and Rare Diseases Genetic and rare skin diseases.

Publication details

Journal / source
Journal of Human Genetics
Volume
71
Issue
7
Pages
427–433
Publication date
13 February 2026
Language
EN