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Article

Costello syndrome: clinical diagnosis in the first year of life.

European journal of pediatrics - 1 Jun 2008

Digilio M Cristina, Sarkozy Anna, Capolino Rossella, Chiarini Testa M Beatrice, Esposito Giorgia, de Zorzi Andrea, Cutrera Renato, Marino Bruno, Dallapiccola Bruno

Abstract excerpt

We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene. Phenotypical overlap of CS with Noonan (NS) and cardiofaciocutaneous syndrome (CFCS), particularly in neonatal age, is well known. Diagnostic features useful for...

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Source

Identifiers

PMID: 17726614
DOI: 10.1007/s00431-007-0558-0

Genes

HRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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