Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. [PDF]
Am J Med Genet A, 2016 Gripp KW +8 more
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Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. [PDF]
Neuroradiol J, 2015 Calandrelli R +5 more
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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. [PDF]
PLoS Genet, 2016 Hartung AM +17 more
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Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. [PDF]
Sci Rep, 2017 Schreiber J +9 more
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P313: Novel presentation of Costello syndrome with urinary tract involvement In early infancy
Genetics in Medicine OpenAniah McLeod +5 more
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Cardiac events in Costello syndrome: One case and a review of the literature. [PDF]
J Saudi Heart Assoc, 2014 Hakim K, Boussaada R, Hamdi I, Msaad H.
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Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. [PDF]
J Neurosci, 2016 Rooney GE +10 more
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