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
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