Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents with primary amenorrhea or develops progressive v...

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Detalles Bibliográficos
Autores principales: De Falco, Luigia, Piscopo, Carmelo, D’Angelo, Rossana, Evangelista, Eloisa, Suero, Teresa, Sirica, Roberto, Ruggiero, Raffaella, Savarese, Giovanni, Di Carlo, Antonella, Furino, Giulia, Scarpato, Ciro, Fico, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700836/
https://www.ncbi.nlm.nih.gov/pubmed/34946839
http://dx.doi.org/10.3390/genes12121890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700836/
https://www.ncbi.nlm.nih.gov/pubmed/34946839
http://dx.doi.org/10.3390/genes12121890

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