TY  - GEN
AU  - Griffiths,Sara
AU  - Loveday,Chey
AU  - Zachariou,Anna
AU  - Behan,Lucy-Ann
AU  - Chandler,Kate
AU  - Cole,Trevor
AU  - D'Arrigo,Stefano
AU  - Dieckmann,Andrea
AU  - Foster,Alison
AU  - Gibney,James
AU  - Hunter,Matthew
AU  - Milani,Donatella
AU  - Pantaleoni,Chiara
AU  - Roche,Edna
AU  - Sherlock,Mark
AU  - Springer,Amanda
AU  - White,Susan M
AU  - Tatton-Brown,Katrina
TI  - EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
SN  - 1552-4833
PY  - 2020///0422
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Child
KW  - Congenital Hypothyroidism
KW  - Craniofacial Abnormalities
KW  - Developmental Disabilities
KW  - Enhancer of Zeste Homolog 2 Protein
KW  - Female
KW  - Fingers
KW  - abnormalities
KW  - Growth Disorders
KW  - Hand Deformities, Congenital
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Myopia
KW  - Obesity
KW  - Phenotype
KW  - Polycomb Repressive Complex 2
KW  - Retinal Degeneration
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.61066
ER  -