An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Authors

Karen W Gripp
Katia Sol-Church
Patroula Smpokou, George Washington University
Gail E Graham
David A Stevenson
Heather Hanson
David H Viskochil
Laura C Baker
Bridget Russo
Nick Gardner
Deborah L Stabley
Verena Kolbe
Georg Rosenberger

Document Type

Journal Article

Publication Date

9-1-2015

Journal

American Journal of Medical Genetics A

Volume

167A

Issue

9

Inclusive Pages

2085-2097

DOI

10.1002/ajmg.a.37128

Comments

This is an open access PubMed Central article. Click on link for full-text access.

APA Citation

Gripp, K., Sol-Church, K., Smpokou, P., Graham, G., Stevenson, D., Hanson, H., Viskochil, D., Baker, L., Russo, B., Gardner, N., Stabley, D., Kolbe, V., & Rosenberger, G. (2015). An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.. American Journal of Medical Genetics A, 167A (9). http://dx.doi.org/10.1002/ajmg.a.37128

Peer Reviewed

1

Open Access

1