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2005 1
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Page 1
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E, Slone J, Gómez Cano MÁ, Campbell TM, Vu J, Sauter KS, Pandey AV, Martínez-Azorín F, Alonso-Riaño M, Neilson DE, Longo N, du Toit T, Voegel CD, Huang T, Flück CE. Pignatti E, et al. Among authors: sauter ks. JCI Insight. 2024 Jun 11:e179071. doi: 10.1172/jci.insight.179071. Online ahead of print. JCI Insight. 2024. PMID: 38885337 Free article.
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE. Martinez de Lapiscina I, et al. Among authors: sauter ks. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
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. Among authors: sauter ks. 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.
18 results