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
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R et al.
The Journal of Clinical Investigation, 2022
35575086 (PubMed )
Supplement: jci-132-154997-s010.pdf
Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency.
Wang R et al.
Frontiers in Genetics, 2022
Select a paper to view details