46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism
Article first published online: 30 JAN 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 82, Issue 6, pages 505–513, December 2012
How to Cite
Stoppa-Vaucher, S., Ayabe, T., Paquette, J., Patey, N., Francoeur, D., Vuissoz, J.-M., Deladoëy, J., Samuels, M., Ogata, T. and Deal, C. (2012), 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Clinical Genetics, 82: 505–513. doi: 10.1111/j.1399-0004.2011.01832.x
- Issue published online: 6 NOV 2012
- Article first published online: 30 JAN 2012
- Received 30 September 2011, revised and accepted for publication 12 December 2011
The following Supporting information is available for this article:
Table S1. Paternity confirmation.
Table S2. Amino acid alignments across species in the regions flanking E89 (red box) performed with Polyphen (http://genetics.bwh.harvard.edu/pph/).
Additional Supporting information may be found in the online version of this article.
|CGE_1832_sm_ts1.doc||55K||Supporting info item|
|CGE_1832_sm_ts2.doc||155K||Supporting info item|
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