Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Lorenz, Sybille

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. [electronic resource] - European journal of medical genetics Nov 2012 - 615-9 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2012.07.007 doi


Costello Syndrome--diagnosis
Fatal Outcome
Female
Genetic Association Studies
Humans
Infant
Infant, Newborn
Male
Mutation, Missense
Proto-Oncogene Mas
Proto-Oncogene Proteins p21(ras)--genetics