Article
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
American journal of medical genetics. Part A - 1 Dec 2013
Tatton-Brown Katrina, Murray Anne, Hanks Sandra, Douglas Jenny, Armstrong Ruth, Banka Siddharth, Bird Lynne M, Clericuzio Carol L, Cormier-Daire Valerie, Cushing Tom, Flinter Frances, Jacquemont Marie-Line, Joss Shelagh, Kinning Esther, Lynch Sally Ann, Magee Alex, McConnell Vivienne, Medeira Ana, Ozono Keiichi, Patton Michael, Rankin Julia, Shears Debbie, Simon Marleen, Splitt Miranda, Strenger Volker, Stuurman Kyra, Taylor Clare, Titheradge Hannah, Van Maldergem Lionel, Temple I Karen, Cole Trevor, Seal Sheila, Rahman Nazneen
Abstract excerpt
Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET...
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