Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

CONTEXT: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal dysgenesis (GD)....

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Detalles Bibliográficos
Autores principales: Cicek, Dilek, Warr, Nick, Yesil, Gozde, Kocak Eker, Hatice, Bas, Firdevs, Poyrazoglu, Sukran, Darendeliler, Feyza, Direk, Gul, Hatipoglu, Nihal, Eltan, Mehmet, Yavas Abali, Zehra, Gurpinar Tosun, Busra, Kaygusuz, Sare Betul, Seven Menevse, Tuba, Helvacioglu, Didem, Turan, Serap, Bereket, Abdullah, Reeves, Richard, Simon, Michelle, Mackenzie, Matthew, Teboul, Lydia, Greenfield, Andy, Guran, Tulay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679844/
https://www.ncbi.nlm.nih.gov/pubmed/34714774
http://dx.doi.org/10.1530/EJE-21-0910

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