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

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第一作者： Rawda,Naamneh Elzenaty

第一单位： Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

作者： Rawda,Naamneh Elzenaty ^[1] ; Idoia,Martinez de Lapiscina ^[2] ; Chrysanthi,Kouri ^[3] ; Kay-Sara,Sauter ^[1] ; Grit,Sommer ^[2] ; Luis,Castaño ^[4] ; Christa E,Flück ^[5] ; SF1next study group ^[6]

作者单位： Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. ^[1] Department of BioMedical Research, University of Bern, Bern, Switzerland. ^[2] Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland. ^[3] Research into the genetics and control of diabetes and other endocrine disorders, Biobizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain. ^[4] CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain. ^[5] CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. ^[6] Endo-ERN, Amsterdam, The Netherlands. ^[7] Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain. ^[8] University of the Basque Country (UPV-EHU), Leioa, Spain. ^[9]

关键词 Differences of sex development (DSD)Steroidogenic factor 1 (SF-1/NR5A1)broad phenotype genotype-phenotype correlation

DOI 10.1210/clinem/dgae251

PMID 38623954

发布时间 2024-04-16

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The Journal of clinical endocrinology and metabolism

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

The Journal of clinical endocrinology and metabolism

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The Journal of clinical endocrinology and metabolism

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

The Journal of clinical endocrinology and metabolism

相似文献

The Journal of clinical endocrinology and metabolism

相关期刊

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