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Pubmed ID :27317772
Publication Date : //

and screen in the Sotos-like syndrome French cohort.


Heterozygous mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the and genes were identified in patients exhibiting only some Sotos syndrome features. Both and genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me). The gene encodes an epigenetic 'reader' protein of the H3K36me chromatin mark.

Authors : Tlemsani Camille , Luscan Armelle , Leulliot Nicolas , Bieth Eric , Afenjar Alexandra , Baujat Geneviève , Doco-Fenzy Martine , Goldenberg Alice , Lacombe Didier , Lambert Laetitia , Odent Sylvie , Pasche Jérôme , Sigaudy Sabine , Buffet Alexandre , Violle-Poirsier Céline , Briand-Suleau Audrey , Laurendeau Ingrid , Chin Magali , Saugier-Veber Pascale , Vidaud Dominique , Cormier-Daire Valérie , Vidaud Michel , Pasmant Eric , Burglen Lydie ,

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