Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused by mutations in specific genes, which are exp...

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Bibliographic Details
Main Authors: Wei Zhang, Jiangfeng Mao, Xi Wang, Bang Sun, Zhiyuan Zhao, Xiaoxia Zhang, Min Nie, Xueyan Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Genetics
Subjects:
disorders/differences of sex development(DSD)
syndromic 46 XY DSD
gonadal dysgenesis
facial deformity
PPP2R3C mutations
compound heterozygous variants
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.871328/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.871328/full

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