Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby

Our results deliver the first important information on the molecular basis of Costello syndrome in Polish population. They indicate that the identified missense mutations in HRAS are known substitutions responsible for CS cases worldwide and confirm that the molecular analysis of HRAS provides a reliable diagnostic test for Polish patients clinically diagnosed with Costello syndrome.