Literature
(2 items) | | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M
Hum Mutat. 2007;28;265-72. PMID: 17054105 DOI: 10.1002/humu.20431
| Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA
Science. 2006;311;1287-90. PMID: 16439621 DOI: 10.1126/science.1124642
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