Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
K. Tatton-Brown,Anne Murray,30 Authors,N. Rahman
2013 · DOI: 10.1002/ajmg.a.36229
American Journal of Medical Genetics. Part A · 131 Citations
TLDR
The identification of an EZH2 mutation can provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes, and knowledge of the clinical spectrum and prognostic implications of EZh2 mutations should improve.