Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Kendir-Demirkol, Y., Yeter, B., & Jenny, L. A. (2023). Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene. Molecular Syndromology, 15(2), 161–166. Portico. https://doi.org/10.1159/000533733

Authors:

Yasemin Kendir-Demirkol

Burcu Yeter

Laura A Jenny

Affiliated Authors:

Laura A Jenny

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Ophthalmology

Author Keywords:

weaver syndrome

ezh2

overgrowth

hypermetropia

periventricular leukomalacia

elink

Publication Type:

Article

Unique ID:

10.1159/000533733

PMID:

38585548

DOI:

10.1159/000533733

Journal:

Molecular Syndromology

Publication Date:

2023-09-28

Data Source:

PubMed

Source Link:

View PubMed Record

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View Web of Science Record

Record Created:

Sunday, July 28, 2024 - 20:50