Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3941729 | Fertility and Sterility | 2008 | 5 Pages |
Abstract
In agreement with functional studies of other AR gene mutations located in the N-terminal transactivation domain, this novel mutation c.118delA is presumed to result in a complete loss of AR function and to be associated with CAIS. Our study extends the spectrum of exon 1 mutations in the AR gene leading to CAIS. Molecular genetic testing of CAIS is recommended not only for diagnostic purposes in affected individuals but also for carriership testing and genetic counseling in unaffected female family members.
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Authors
Karel M.D., Pascal Ph.D., Elfride M.D., Ph.D., Piet M.D., Ph.D., Jean-Marc M.D., Ph.D., Charles M.D., Ph.D., Guy M.D., Ph.D.,