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pro vyhledávání: '"Djalila Rezgoune"'
Autor:
Anu Bashamboo, Mehdi Totonchi, Masomeh Askari, Dominique Simon, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Raja Brauner, Dalila Satta, Noureddine Abadi, Yasmina Benelmadani, Inas Mazen, Djalila Rezgoune, Karima Sifi, Asmahane Ladjouze, Mehrshad Seresht-Ahmadi, Mandana Rastari, Juliane Léger, Ralf Jauch, Housna Zidoune, Ken McElreavey, Laetitia Martinerie, Asma Boukri
Publikováno v:
Sexual Development
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩
Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a c