Associated Papers
Clinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature.
Ren L et al.
Medicine, 2025
Functional analysis of human EED variants using Drosophila.
Cyrus SS et al.
Genetics, 2025
EED related overgrowth: First report of multiple members in a single family.
Goel H et al.
American Journal of Medical Genetics. Part A, 2024
The engagement of histone lysine methyltransferases with nucleosomes: structural basis, regulatory mechanisms, and therapeutic implications.
Li Y et al.
Protein & Cell, 2023
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Spellicy CJ et al.
Journal of Human Genetics, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Griffiths S et al.
American Journal of Medical Genetics. Part A, 2019
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
Smigiel R et al.
Journal of Human Genetics, 2018
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Imagawa E et al.
Human Mutation, 2017
Novel EED mutation in patient with Weaver syndrome.
Cooney E et al.
American Journal of Medical Genetics. Part A, 2017
A novel mutation in EED associated with overgrowth.
Cohen AS et al.
Journal of Human Genetics, 2015
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