HIGHLIGHTS
- who: UNC and colleagues from the Universitu00e9Research University Paris Citu00e9, Paris, France have published the Article: The Journal of Clinical Investigation, in the Journal: (JOURNAL)
- what: The authors report 6 additional patients carrying UNC45A variants associated with similar patient phenotypes.
SUMMARY
A syndrome that variably combines congenital diarrhea, cholestasis, loss of hearing, and bone fragility was recently described in 3 families and ascribed to loss-of-function (LoF) variants in UNC45A. A zebrafish model of unc45a deficiency showed abnormal development of epithelial folds in the proximal intestine and impaired intestinal motility . . .
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