A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

BACKGROUND: Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue. Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell t...

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Detalles Bibliográficos
Autores principales: Shahid, Mohammad, Dhillon, Varinderpal S, Khalil, Hesham Saleh, Haque, Shameemul, Batra, Swaraj, Husain, Syed Akhtar, Looijenga, LHJ
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949616/
https://www.ncbi.nlm.nih.gov/pubmed/20849656
http://dx.doi.org/10.1186/1471-2350-11-131

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