Associated Papers
A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.
Sun Z et al.
Molecular Genetics & Genomic Medicine, 2025
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R et al.
Journal of Hepatology, 2023
Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency.
Wang R et al.
Frontiers in Genetics, 2022
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C et al.
American Journal of Human Genetics, 2018
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