A novelHRASsubstitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

(2012) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

Male-to-male transmission of Costello syndrome: G12SHRASgermline mutation inherited from a father with somatic mosaicism

(2009) Katia Sol-Church et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

(2009) Angela E. Lin et al.   PRENATAL DIAGNOSIS

Costello syndrome associated with novel germlineHRAS mutations: An attenuated phenotype?

(2008) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identifying modifier genes of monogenic disease: strategies and difficulties

(2008) Emmanuelle Génin et al.   HUMAN GENETICS

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

OncogenicHRASmutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

(2008) Georg Rosenberger et al.   HUMAN MUTATION

Ras oncogenes: split personalities

(2008) Antoine E. Karnoub et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE

Mutation analysis in Costello syndrome: functional and structural characterization of theHRASp.Lys117Arg mutation

(2007) Ellen Denayer et al.   HUMAN MUTATION