Condition: Weaver syndrome
rs397515547 in
EZH2 gene and
Weaver syndrome
PMID 28229514 2017 Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
PMID 23239504 2013 Weaver syndrome and defective cortical development: a rare association.
PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.
PMID 26694085 2016 Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.