| dc.creator | Soardi, FC | |
| dc.creator | Coeli, FB | |
| dc.creator | Maciel-Guerra, AT | |
| dc.creator | Guerra, G | |
| dc.creator | de Mello, MP | |
| dc.date | 2010 | |
| dc.date | 2014-11-16T10:45:38Z | |
| dc.date | 2015-11-26T16:22:05Z | |
| dc.date | 2014-11-16T10:45:38Z | |
| dc.date | 2015-11-26T16:22:05Z | |
| dc.date.accessioned | 2018-03-28T23:03:49Z | |
| dc.date.available | 2018-03-28T23:03:49Z | |
| dc.identifier | Journal Of Applied Genetics. Polish Acad Sciences, Inst Plant Genetics, v. 51, n. 2, n. 223, n. 224, 2010. | |
| dc.identifier | 1234-1983 | |
| dc.identifier | WOS:000278115700015 | |
| dc.identifier | 10.1007/BF03195733 | |
| dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56344 | |
| dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/56344 | |
| dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/56344 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1268045 | |
| dc.description | The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A. member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. | |
| dc.description | 51 | |
| dc.description | 2 | |
| dc.description | 223 | |
| dc.description | 224 | |
| dc.language | en | |
| dc.publisher | Polish Acad Sciences, Inst Plant Genetics | |
| dc.publisher | Poznan | |
| dc.publisher | Polónia | |
| dc.relation | Journal Of Applied Genetics | |
| dc.relation | J. Appl. Genetics | |
| dc.rights | fechado | |
| dc.source | Web of Science | |
| dc.subject | gene mutations | |
| dc.subject | NR5A1 gene | |
| dc.subject | XY gonadal dysgenesis | |
| dc.subject | Steroidogenic Factor-i | |
| dc.subject | Insufficiency | |
| dc.subject | Disorders | |
| dc.subject | Ad4bp | |
| dc.subject | Sf-1 | |
| dc.title | Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study | |
| dc.type | Artículos de revistas | |
