GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two cop...

Descripción completa

Detalles Bibliográficos
Autores principales: Çelik, Nurullah, Küçük Kurtulgan, Hande, Kılıçbay, Fatih, Tunç, Gaffari, Kömürlüoğlu, Ayça, Taşçı, Onur, Çağlar Şimşek, Cemile Ece, Çınar, Taha, Sıdar Duman, Yeşim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724050/
https://www.ncbi.nlm.nih.gov/pubmed/34355877
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724050/
https://www.ncbi.nlm.nih.gov/pubmed/34355877
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0112

Ejemplares similares