SF1next study group[Corporate Author] - Search Results

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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.

Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE; SF1next study group. Naamneh Elzenaty R, et al. J Clin Endocrinol Metab. 2024 Apr 16:dgae251. doi: 10.1210/clinem/dgae251. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38623954 Free article.

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE; SF1next study group. Kouri C, et al. EBioMedicine. 2024 Jan;99:104941. doi: 10.1016/j.ebiom.2023.104941. Epub 2024 Jan 1. EBioMedicine. 2024. PMID: 38168586 Free PMC article.

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