Article

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in <i>UNC45A</i>

2017-10-26

Abstract excerpt

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, a clinical entity we have termed O2HE (Osteo-Oto-Hepato-enteric) syndrome. Whole exome sequencing of all aff...

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Literature Corpus work: 8b876796-46d3-509b-a6f1-93cf76ff6d88
DOI: 10.1101/208942

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