Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

• Main Authors: Khouloud Rjiba (Author), Soumaya Mougou-Zerelli (Author), Imen hadj Hamida (Author), Ghada Saad (Author), Bochra Khadija (Author), Afef Jelloul (Author), Wafa Slimani (Author), Yosra Hasni (Author), Sarra Dimassi (Author), Hela Ben khelifa (Author), Amira Sallem (Author), Molka Kammoun (Author), Hamza Hadj Abdallah (Author), Moez Gribaa (Author), Joelle Bignon-Topalovic (Author), Sami Chelly (Author), Hédi Khairi (Author), Mohamed Bibi (Author), Maha Kacem (Author), Ali Saad (Author), Anu Bashamboo (Author), Kenneth McElreavey (Author)
• Format: Bog
• Udgivet: BMC, 2023-01-01T00:00:00Z.
• Fag: article
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Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the ge...