[Clinical features and molecular mechanism of infantile cholestasis caused by IFT122 gene variants].

PubMed 2026

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Authors: Jiajia Li, Yan Li, Ruida He, Jianguo Feng, Jian‐She Wang
DOI: 10.3760/cma.j.cn112140-20250812-00743
Cited by: 0

Abstract

The compound heterozygous missense variants in IFT122 gene not only impair ciliogenesis but also disrupt the ciliary localization of ARL13B and INPP5E, ultimately resulting in high-GGT infantile cholestasis.

Fields of Study & Subjects

Pediatric Hepatobiliary Diseases and Treatments Genetic and Kidney Cyst Diseases Genomics and Rare Diseases

Publication details

Journal / source
PubMed
Volume
64
Issue
1
Pages
99–105
Publication date
2 January 2026
Language
ZH