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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Filges, Isabel and Kunz, Christophe and Miny, Peter and Boesch, Nemya and Szinnai, Gabor and Wenzel, Friedel and Tschudin, Sibil and Zumsteg, Urs and Heinimann, Karl. (2011) A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and sterility, Vol. 96, H. 4. S. 851-855.

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Official URL: http://edoc.unibas.ch/dok/A6003735

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Abstract

To investigate the familial segregation, role, and function of a novel SRY missense mutation c.347T<C in two half-sisters affected by 46,XY complete gonadal dysgenesis (CDG) compatible with a successful pregnancy outcome.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB)
03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > P├Ądiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > P├Ądiatrie (Frey)
UniBasel Contributors:Zumsteg, Urs W. and Miny, Peter and Szinnai, Gabor and Heinimann, Karl
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:The American Fertility Society
ISSN:0015-0282
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:27 Mar 2014 13:13
Deposited On:27 Mar 2014 13:13

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