A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family
Article first published online: 20 FEB 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 2, pages 162–168, February 2013
How to Cite
Ng, W., Pasutto, F., Bardakjian, T., Wilson, M., Watson, G., Schneider, A., Mackey, D., Grigg, J., Zenker, M. and Jamieson, R. (2013), A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clinical Genetics, 83: 162–168. doi: 10.1111/j.1399-0004.2012.01851.x
- Issue published online: 7 JAN 2013
- Article first published online: 20 FEB 2012
- Accepted manuscript online: 27 JAN 2012 09:34AM EST
- Received 12 November 2011, revised and accepted for publication 20 January 2012
The following Supporting information is available for this article:
Fig. S1. FRAS1 mutations in the family. (a) FRAS1 c.2186G>T (p.Cys729Phe) is present in Patients I.2 and I.3, but not in Patient II.3. (b) FRAS1 c.11438T>C (p.Leu3813Pro) is present in Patient I.4.
Fig. S2. STRA6 mutations in the family. (a) STRA6 c.52_53insGACT (p.Tyr18*) is present in Patients I.1, II.3. and III.2. (b) STRA6 c.1931C>T (p.Thr644Met) is present in Patient I.2.
Additional Supporting information may be found in the online version of this article.
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