A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure

A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure

SLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the SLC44A1 gene are considered to be...

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Bibliographic Details
Main Authors: Dogan Barut, Emine Burçe Dörtkardeşler, Miray Karakoyun, Ebru Canda, Huseyin Onay, Sema Aydogdu
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Choline transporter deficiency
Neonatal cholestasis
Liver failure
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000199
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