Article
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Human mutation - 1 Mar 2007
Zampino Giuseppe, Pantaleoni Francesca, Carta Claudio, Cobellis Gilda, Vasta Isabella, Neri Cinzia, Pogna Edgar A, De Feo Emma, Delogu Angelica, Sarkozy Anna, Atzeri Francesca, Selicorni Angelo, Rauen Katherine A, Cytrynbaum Cheryl S, Weksberg Rosanna, Dallapiccola Bruno, Ballabio Andrea, Gelb Bruce D, Neri Giovanni, Tartaglia Marco
Abstract excerpt
Activating mutations in v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) have recently been identified as the molecular cause underlying Costello syndrome (CS). To further investigate the phenotypic spectrum associated with germline HRAS mutations and characterize their molecular diversity, subjects with a diagnosis of CS (N = 9), Noonan syndrome (NS; N = 36), cardiofaciocutaneous syndrome (CFCS; N = 4),...
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