The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Katrina Tatton-Brown , Anna Zachariou , Chey Loveday , Anthony Renwick , Shazia Mahamdallie , Lise Aksglaede , Diana Baralle , Daniela Barge-Schaapveld , Moira Blyth , Mieke Bouma , Jeroen Breckpot , Beau Crabb , Tabib Dabir , Valerie Cormier-Daire , Christine Fauth , Richard Fisher , Blanca Gener , David Goudie , Tessa Homfray , Matthew Hunter , Agnete Jorgensen , Sarina G Kant , Cathy Kirally-Borri , David Koolen , Ajith Kumar , Anatalia Labilloy , Melissa Lees , Carlo Marcelis , Catherine Mercer , Cyril Mignot , Kathryn Miller , Katherine Neas , Ruth Newbury-Ecob , Daniela T Pilz , Renata Posmyk , Carlos Prada , Keri Ramsey , Linda M Randolph , Angelo Selicorni , Deborah Shears , Mohnish Suri , I Karen Temple , Peter Turnpenny , Lionel Val Maldergem , Vinod Varghese , Hermine E Veenstra-Knol , Naomi Yachelevich , Laura Yates , , , Nazneen Rahman Wellcome open research（2018）
摘要
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 heterozygous
DNMT3Ade novoDNMT3A
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关键词
DNMT3A, Tatton-Brown-Rahman, intellectual disability, overgrowth
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