EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths, Sara

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. [electronic resource] - American journal of medical genetics. Part A 04 2019 - 588-594 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.61066 doi


Abnormalities, Multiple--genetics
Adult
Child
Congenital Hypothyroidism--genetics
Craniofacial Abnormalities--genetics
Developmental Disabilities--genetics
Enhancer of Zeste Homolog 2 Protein--genetics
Female
Fingers--abnormalities
Growth Disorders--genetics
Hand Deformities, Congenital--genetics
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Muscle Hypotonia--genetics
Mutation
Myopia--genetics
Obesity--genetics
Phenotype
Polycomb Repressive Complex 2--genetics
Retinal Degeneration--genetics
Exome Sequencing
Young Adult