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
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
Sun M et al.
Cellular and Molecular Gastroenterology and Hepatology, 2024
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
Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency.
Wang R et al.
Frontiers in Genetics, 2022
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Tran Mau-Them F et al.
Human Genetics, 2020
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