Esteve, C. et al. 2018 Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three... Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.