Skip to main content
. 2012 Apr 11;158A(5):1102–1110. doi: 10.1002/ajmg.a.35296

TABLE II.

Germline Mutations Predicting p.Gly12Val in Patients With Severe Costello Syndrome

Patient Nucleotide substitution
1 c.35_36delinsTA
2 c.35_36delinsTT
3 c.35_36delinsTT
4 c.35G > T
Aoki et al. [2005] (Patient COS37) c.35_36delinsTT
van der Burgt et al. [2007] (Patient 1) c.35_36delinsTT