
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, et al. Costello syndrome: clinical phenotype, genotype and management guidelines. Am J Med Genet A. 2019;179:1725–44.
Chiu AT, Leung GK, Chu YW, Gripp KW, Chung BH. A new patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Review and update of the literature. Am J Med Genet A. 2017;173:1109–14.
Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G. Attenuated Costello syndrome phenotype and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signaling dynamics. Clin Genet. 2017;92:332–7.
Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, et al. Functional analysis of a duplication (p.E63_D69dup) in the HRAS switch II region: new aspects of the molecular pathogenesis underlying Costello syndrome. Hum Mol Genet. 2013;22:1643–53.
Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, et al. An attenuated Costello syndrome phenotype in three unrelated individuals carrying an HRAS c.179G>A (p.Gly60Asp) mutation correlates with infrequent functional consequences. Am J Med Genet A. 2015;167A:2085–97.
Gripp KW, Baker L, Robbins KM, Stabley DL, Bellus GA, Kolbe V, et al. The new HRAS duplication c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. Eur J Hum Genet. 2020;28:1548–54.
Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K. Inheritance of the rare HRAS mutation (c. 173C>T; p.T58I) further illustrates its attenuated phenotype. Am J Med Genet A. 2012;158A:1095–101.
Quilliam LA, Zhong S, Rabun KM, Carpenter JW, South TL, Der CJ, et al. Biological and structural characterization of a Ras-transforming mutation at residue phenylalanine-156, which is conserved in all members of the Ras superfamily. Proc Natl Acad Sci USA. 1995;92:1272–6.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, et al. Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007;28:265–72.
Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, et al. Costello syndrome associated with new HRAS germline mutations: an attenuated phenotype? Am J Med Genet A. 2008;146A:683–90.
Hiippala A, Vasilescu C, Tallila J, Alastalo TP, Paetau A, Tyni T, et al. Rare variant of Costello HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy. Am J Med Genet A. 2016;170:1433–8.
Leoni C, Giorgio V, Onesimo R, Kuczynska E, Zampino G. Impact of Costello syndrome on growth patterns. Am J Med Genet A. 2020;182:2797–9.
Leoni C, Romeo DM, Pelliccioni M, Di Gia M, Onesimo R, Giorgio V, et al. Musculoskeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insight into the state of the functional assessment. Orphanet J Rare Dis. 2021;16:43.
Choi N, Ko JM, Shin SH, Kim EK, Kim HS, Song MK, et al. Phenotypic and genetic characteristics of five Korean patients with Costello syndrome. Cytogenet Genome Res. 2019;158:184–91.
Vuralli D, Kosukcu C, Taskiran E, Simsek-Kiper PO, Utine GE, Boduroglu K, et al. Hyperinsulinaemic hypoglycaemia in a patient with costello syndrome: an etiology to consider in hypoglycaemia. Mol-Syndromel. 2020;11:207–16.
Carpentieri G, Leoni C, Pietraforte D, Cecchetti S, Iorio E, Belardo A, et al. Hyperactive HRAS disrupts energy metabolism in fibroblasts from patients with Costello syndrome via increased production of reactive oxidant species. Hum Mol Genet. 2022;31:561–75.
Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, et al. Respiratory system involvement in Costello syndrome. Am J Med Genet A. 2016;170:1849–57.
Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, et al. Analysis of mutations in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Hum Mutat. 2008;29:232–9.
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, et al. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011;155A:706–16.
Gremer L, Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, Kratz CP, Zenker M, et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat. 2010;32:33–43.