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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all...

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Detalles Bibliográficos
Autores principales: de Oliveira, Felipe Rodrigues, Mazzola, Taís Nitsch, de Mello, Maricilda Palandi, Francese-Santos, Ana Paula, de Lemos-Marini, Sofia Helena V., Maciel-Guerra, Andrea Trevas, Hiort, Olaf, Werner, Ralf, Guerra-Junior, Gil, Fabbri-Scallet, Helena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10222664/
https://www.ncbi.nlm.nih.gov/pubmed/37240737
http://dx.doi.org/10.3390/life13051093