A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly-Reference-Cited by-同舟云学术

A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

Published:2021-03-31 Issue:7 Volume:185 Page:2234-2237
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Turkkahraman Doga¹^ORCID,Sakarya Atiye Nil Palancı²,Randa Nadide Cemre³^ORCID

Affiliation:

1. Department of Pediatric Endocrinology University of Health Sciences, Antalya Training and Research Hospital Antalya Turkey

2. Department of Pediatrics Antalya Training and Research Hospital Antalya Turkey

3. Department of Medical Genetics Antalya Training and Research Hospital Antalya Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62189

Reference6 articles.

1. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

2. PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes;Cyrus S.;American Journal of Medical Genetics,2019

3. Mutations in EZH2 Cause Weaver Syndrome

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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1. Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe;Advances in Skin & Wound Care;2024-06

2. Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene;Molecular Syndromology;2023-09-28

3. Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder;Clinical Genetics;2023-01-25

4. First Korean Case of Weaver Syndrome Along with Neuroblastoma and Genetic Confirmation of EZH2 Variant;Laboratory Medicine Online;2023-01-01