Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3932017 | Fertility and Sterility | 2011 | 6 Pages |
Abstract
The missense mutation c.347T>C in the high mobility group domain of SRY causes 46,XY CGD. Paternal gonadal mosaicism is likely to explain the familial occurrence of 46,XY CGD suggesting a de novo mutational event during the early stages of embryonic development. This novel mutation is compatible with a successful pregnancy outcome.
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Authors
Isabel M.D., Christophe Ph.D., Peter M.D., Nemya B.Sc., Gabor M.D., Ph.D., Friedel M.Sc., Sibil M.D., Urs M.D., Karl M.D., Ph.D.,