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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Detalles Bibliográficos
Autores principales: Zhang, Wei, Mao, Jiangfeng, Wang, Xi, Sun, Bang, Zhao, Zhiyuan, Zhang, Xiaoxia, Nie, Min, Wu, Xueyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259967/
https://www.ncbi.nlm.nih.gov/pubmed/35812758
http://dx.doi.org/10.3389/fgene.2022.871328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259967/
https://www.ncbi.nlm.nih.gov/pubmed/35812758
http://dx.doi.org/10.3389/fgene.2022.871328

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