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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Gripp KW, et al. Among authors: stabley dl. Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438134 Free PMC article.
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K. Gripp KW, et al. Among authors: stabley dl. Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834037 Free PMC article.
Normative growth charts for individuals with Costello syndrome.
Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. Sammon MR, et al. Among authors: stabley dl. Am J Med Genet A. 2012 Nov;158A(11):2692-9. doi: 10.1002/ajmg.a.35534. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887473
54 results