Associated Papers
Primary human intestinal organoids with biallelic UNC45A variants suggest role of cystic fibrosis transmembrane conductance regulator in pathogenesis of UNC45A-related intestinal disorder.
Foster AR et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
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