Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
Version of Record online: 11 OCT 2010
© 2010 John Wiley & Sons A/S
Special Issue: Exome Sequencing
Volume 80, Issue 2, pages 169–176, August 2011
How to Cite
Boyadjiev, S., Kim, S.-D., Hata, A., Haldeman-Englert, C., Zackai, E., Naydenov, C., Hamamoto, S., Schekman, R. and Kim, J. (2011), Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clinical Genetics, 80: 169–176. doi: 10.1111/j.1399-0004.2010.01550.x
- Issue online: 12 JUL 2011
- Version of Record online: 11 OCT 2010
- Accepted manuscript online: 16 SEP 2010 01:12PM EST
- Received 2 August 2010, revised and accepted for publication 14 September 2010
The following Supporting information is available for this article:
Fig. S1. A frontal image of the patient with CLSD at 8 months (A) and 21 months (B) of life. Arrowheads indicate the unusual vascular and pigmentary changes of the skin over the large anterior fontanel extending to the middle of the forehead. The asterisks indicate the center of the pupils and document hypertelorism. Figure B is an essentially larger image of Fig. 1a in the main text. The changes in the forehead skin tend to be less prominent with age.
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