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
A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
Li Q et al.
Cellular and Molecular Gastroenterology and Hepatology, 2022
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