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EED and EZH2 Constitutive Variants: A Study to Expand the Cohen‐Gibson Syndrome Phenotype and Contrast It with Weaver Syndrome

Sara Griffiths,Chey Loveday,Anna Zachariou,Lucy-Ann Behan,Kate Chandler,Trevor Cole,Stefano D'Arrigo,Andrea Dieckmann,Alison Foster,James Gibney,Matthew Hunter,Donatella Milani,Chiara Pantaleoni,Edna Roche,Mark Sherlock,Amanda Springer,Susan M. White,Katrina Tatton-Brown

American journal of medical genetics Part A（2019）

引用 18|浏览68
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关键词
Cohen-Gibson,EED,EZH2,intellectual disability,overgrowth,Weaver
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