the AJMG SEQUENCE
Rasopathy diagnosis advances
Quick, accurate diagnoses are now commonplace
Version of Record online: 18 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, page xi, November 2012
How to Cite
(2012), Rasopathy diagnosis advances. Am. J. Med. Genet., 158A: xi. doi: 10.1002/ajmg.a.35724
- Issue online: 18 OCT 2012
- Version of Record online: 18 OCT 2012
- 2012. A novel HRAS substitution (c.266C > G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. Am J Med Genet A. 158A: 2106–2118. , , , , , , , .
- 2012. Transmission of the rare HRAS mutation (c. 173C >T; p.T581) further illustrates its attenuated phenotype. Am J Med Genet A. 158A: 1095–1101. , , , , , .