Article
Evidence for NR2F2/COUP-TFII involvement in human testis development.
Scientific reports - 1 Aug 2024
Wankanit Somboon, Zidoune Housna, Bignon-Topalovic Joëlle, Schlick Laurène, Houzelstein Denis, Fusée Leila, Boukri Asma, Nouri Nassim, McElreavey Ken, Bashamboo Anu, Elzaiat Maëva
Abstract excerpt
NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of the steroidogenic lineages of the murine fetal testes and ovaries. Pathogenic variants in human NR2F2 are associated with testis formation in 46,XX individuals, however, the function of COUP-TFII in the human testis is unknown. We report a de novo heterozygous variant in NR2F2 (c.737G > A, p.Arg246His) in a 46,XY...
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