Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report
Author:
Publisher
Wiley
Subject
Obstetrics and Gynecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1447-0756.2012.01956.x/fullpdf
Reference7 articles.
1. Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain;Shahid;Fertil Steril,2008
2. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma;Hersmus;Eur J Hum Genet,2009
3. Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: A single nucleotide polymorphism array analysis;Bergeron;Pediatr Dev Pathol,2010
4. Mutational analysis of SRY in females;Ross Hawkins;Hum Mutat,1993
5. Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: A case report;Maleki;Diagn Cytopathol,2011
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1. Generation and mutational analysis of a transgenic mouse model of human SRY;2021-03-04
2. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import;Gene;2018-04
3. XY Female;Atlas of Genetic Diagnosis and Counseling;2017
4. XY Female;Atlas of Genetic Diagnosis and Counseling;2016
5. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic;Endocrine Connections;2014-12
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