Baynam, G; overkov, A; Davis, M.; Mina, K; Schofield, L; Allcock, R; Laing, N; Cook, Matthew; Dawkins, H; Goldblatt, J
We report on three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified and represents the first reported human condition due to a germline, familial MTOR 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...[Show more]
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