Behavioral phenotype in Costello syndrome with atypical mutation: a case report (Q50303363)

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title

Behavioral phenotype in Costello syndrome with atypical mutation: a case report (English)

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7

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Bruno Dallapiccola

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author name string

Paolo Alfieri

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Cristina Caciolo

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Giorgia Piccini

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Lidia D'Elia

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Giovanni Valeri

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Deny Menghini

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Maria Cristina Digilio

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Stefano Vicari

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publication date

4 November 2014

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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volume

168B

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issue

1

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page(s)

66-71

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Autism traits in the RASopathies.

cites work

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Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome

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Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review

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HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy

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Communication intervention for children with autism: a review of treatment efficacy

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Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation

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Problem behavior interventions for young children with autism: a research synthesis

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Further delineation of the behavioral and neurologic features in Costello syndrome

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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An unexpected new role of mutant Ras: perturbation of human embryonic development

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Behavioral interventions for children with autism spectrum disorders

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

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Biochemical and functional characterization of germ line KRAS mutations

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Noonan syndrome and related disorders: genetics and pathogenesis

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Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

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A systematic review of early intensive intervention for autism spectrum disorders

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The adult phenotype in Costello syndrome.

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Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

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Identifiers

DOI

10.1002/AJMG.B.32279

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