EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. [electronic resource]
Producer: 20200422Description: 588-594 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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