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

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 674 citations

Life Sciences, Genetics, Molecular Genetics +14

Genotype-phenotype correlation in Costello syndrome: <i>HRAS</i> mutation analysis in 43 cases

Bronwyn Kerr · Journal of Medical Genetics · 2006 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Angela E. Lin, Mark E. Alexander, Steven D. Colan et al. · American Journal of Medical Genetics Part A · 2011 · 132 citations · Full text

Medicine, Cardiology, Genetics +17

Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta et al. · Human Mutation · 2006 · 132 citations

Medicine, Genetics, Molecular Genetics +12

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

AL Schulz, Beate Albrecht, I. van der Bürgt et al. · Clinical Genetics · 2007 · 109 citations

Life Sciences, Genetics, Molecular Genetics +14