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

Am J Med Genet A. 2021 Jul;185(7):2234-2237. doi: 10.1002/ajmg.a.62189. Epub 2021 Mar 31.

Authors

Doga Turkkahraman¹, Atiye Nil Palancı Sakarya², Nadide Cemre Randa³

Affiliations

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.

PMID: 33788986
DOI: 10.1002/ajmg.a.62189

No abstract available

Publication types

Letter

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Adolescent
Child
Congenital Hypothyroidism / complications
Congenital Hypothyroidism / diagnostic imaging
Congenital Hypothyroidism / genetics*
Congenital Hypothyroidism / pathology
Craniofacial Abnormalities / complications
Craniofacial Abnormalities / diagnostic imaging
Craniofacial Abnormalities / genetics*
Craniofacial Abnormalities / pathology
Enhancer of Zeste Homolog 2 Protein / genetics*
Fingers / abnormalities*
Fingers / diagnostic imaging
Fingers / pathology
Hand Deformities, Congenital / complications
Hand Deformities, Congenital / diagnostic imaging
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / pathology
Humans
Male
Polydactyly / complications
Polydactyly / diagnostic imaging
Polydactyly / genetics*
Polydactyly / pathology
Toes / abnormalities*
Toes / diagnostic imaging
Toes / pathology

Substances

EZH2 protein, human
Enhancer of Zeste Homolog 2 Protein

Supplementary concepts

Polydactyly, Postaxial
Weaver syndrome