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

doi:10.1186/s12958-022-01045-7

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Article

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

Reproductive biology and endocrinology : RB&E - 11 Jan 2023

Rjiba Khouloud, Mougou-Zerelli Soumaya, Hamida Imen Hadj, Saad Ghada, Khadija Bochra, Jelloul Afef, Slimani Wafa, Hasni Yosra, Dimassi Sarra, Khelifa Hela Ben, Sallem Amira, Kammoun Molka, Abdallah Hamza Hadj, Gribaa Moez, Bignon-Topalovic Joelle, Chelly Sami, Khairi Hédi, Bibi Mohamed, Kacem Maha, Saad Ali, Bashamboo Anu, McElreavey Kenneth

Abstract excerpt

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 genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. METHODS: To determine the genetic causes of 46,XY DSD, we...

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PMID: 36631813
DOI: 10.1186/s12958-022-01045-7
PMCID: PMC9990451

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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