Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants

• Principais autores: Katia Margiotti (Autor), Francesco Libotte (Autor), Marco Fabiani (Autor), Alvaro Mesoraca (Autor), Claudio Giorlandino (Autor)
• Formato: Livro
• Publicado em: Hindawi Limited, 2024-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Background. The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed t...