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First published 2007-5

Costello Syndrome: Cognitive and Proton Magnetic Resonance Spectroscopy Findings—A Case Report

Tommaso Perniola, Franca Dicuonzo, Lucia Margari [...]

Journal of Child Neurology

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Research article

First published 2014-11

Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA;p.G12E)–Associated Pulmonary Vascular Disease

K. Nicole Weaver, Dehua Wang, James Cnota [...]

Pediatric and Developmental Pathology

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Case report

First published 2011-5

Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

Martine Sinico, Guillaume Bassez, Claudine Touboul [...]

Pediatric and Developmental Pathology

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Case report

First published 2015-5

Fatal Congenital Hypertrophic Cardiomyopathy and a Pancreatic Nodule Morphologically Identical to Focal Lesion of Congenital Hyperinsulinism in an Infant with Costello Syndrome: Case Report and Review of the Literature

Brandon S. Sheffield, Stephen Yip, Eduardo D. Ruchelli [...]

Pediatric and Developmental Pathology

Free access

Research article

First published 2006-12

Severe Scoliosis Associated with Costello Syndrome: A Case Report

T Motosuneya, T Asazuma, T Tsuji [...]

Journal of Orthopaedic Surgery

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Other

First published 2003-07

Costello Syndrome and Chiari I Malformation: Apropos of a Case With a Review of the Literature Regarding a Potential Association

R. Shane Tubbs, W. Jerry Oakes

Journal of Child Neurology

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Research article

First published 2015-6

Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding

Rosalinda Calandrelli, Gabriella D’Apolito, Marco Panfili [...]

The Neuroradiology Journal

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Case report

First published 2023-12

Prenatal Diagnosis of Costello Syndrome Using Noninvasive Prenatal Single Gene Testing With Maternal Blood

Suner M., Pitchika A., Szuhay G. [...]

Journal of Neonatology

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Abstract

First published 2006-1

Hras Mutations in Costello Syndrome: Detection of Activating Mutations in Codon 12 and Codon 13 and Loss of Heterozygosity in Rhabdomyosarcoma

K.A. Rauen, A.L. Estep, W.E. Tidyman [...]

Journal of Investigative Medicine

Open access

Research article

First published 2026

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies

Evelyn M. Elizondo, Anne M. Floyd, Allison M. H. Foy [...]

Therapeutic Advances in Rare Disease

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