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A gain\u2010of\u2010function mutation in <jats:italic>MTOR<\/jats:italic> was identified and represents the first reported human condition due to a germline, familial <jats:italic>MTOR<\/jats:italic> mutation. We describe the findings in this family to highlight that (i) the path to determination of pathogenicity was confounded by the lack of genomic reference data for Australian Aboriginals and that (ii) the disease biology, functional analyses in this family, and studies on the tuberous sclerosis complex support consideration of an mTOR inhibitor as a therapeutic agent. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37070","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T14:27:42Z","timestamp":1428330462000},"page":"1659-1667","source":"Crossref","is-referenced-by-count":46,"title":["A germline <i>MTOR<\/i> mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces"],"prefix":"10.1002","volume":"167","author":[{"given":"Gareth","family":"Baynam","sequence":"first","affiliation":[{"name":"Genetic Services of Western Australia Princess Margaret and King Edward 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