Browsing Genetics and Epidemiology by author "Zachariou, Anna"
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Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks, S; Perdeaux, ER; Seal, S; Ruark, E; Mahamdallie, SS; et al. (NATURE PUBLISHING GROUP, 2014-08-07)Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ... -
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; et al. (F1000 Research Ltd, 2018-01-01)Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...