Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169
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Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI).
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders |
UniBE Contributor: |
Camats Tarruella, Núria, Pandey, Amit Vikram, Janner, Marco, Mullis, Primus-Eugen, Flück Pandey, Christa Emma |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0021-972X |
Publisher: |
Endocrine Society |
Language: |
English |
Submitter: |
Amit Vikram Pandey |
Date Deposited: |
04 Oct 2013 14:40 |
Last Modified: |
06 Jan 2023 23:15 |
Publisher DOI: |
10.1210/jc.2011-3169 |
PubMed ID: |
22549935 |
Web of Science ID: |
000306286100030 |
BORIS DOI: |
10.7892/boris.16092 |
URI: |
https://boris.unibe.ch/id/eprint/16092 (FactScience: 223667) |
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