Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
| Data(s) |
01/05/2012
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| Resumo |
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). |
| Formato |
application/pdf |
| Identificador |
http://boris.unibe.ch/16092/1/jc.pdf Camats, N.; Pandey, A. V.; Fernández-Cancio, M.; Andaluz, P.; Janner, M.; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, P. E.; Carrascosa, A.; Audí, L.; Flück, C. E. (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 <http://dx.doi.org/10.1210/jc.2011-3169> doi:10.7892/boris.16092 info:doi:10.1210/jc.2011-3169 info:pmid:22549935 urn:issn:0021-972X |
| Idioma(s) |
eng |
| Publicador |
Endocrine Society |
| Relação |
http://boris.unibe.ch/16092/ |
| Direitos |
info:eu-repo/semantics/openAccess |
| Fonte |
Camats, N.; Pandey, A. V.; Fernández-Cancio, M.; Andaluz, P.; Janner, M.; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, P. E.; Carrascosa, A.; Audí, L.; Flück, C. E. (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 <http://dx.doi.org/10.1210/jc.2011-3169> |
| Palavras-Chave | #610 Medicine & health |
| Tipo |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion PeerReviewed |
