Associated Papers
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Pohjola P et al.
Genetic Testing and Molecular Biomarkers, 2012
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