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Article

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

Clinical chemistry - 1 Oct 2007

Stenirri Stefania, Restagno Gabriella, Ferrero Giovanni Battista, Alaimo Georgia, Sbaiz Luca, Mari Caterina, Genitori Lorenzo, Maurizio Ferrari, Cremonesi Laura

Abstract excerpt

BACKGROUND: Craniosynostosis, the premature fusion of 1 or more sutures of the skull, is a common congenital defect, with a prevalence of 1 in 2500 live births. Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. The heterogeneity of clinical phenotypes and the overlap of the various associated syndromes render the correct diagnosis of...

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Source

Identifiers

PMID: 17693524
DOI: 10.1373/clinchem.2007.089292

Genes

FGFR2
FGFR3
TWIST1

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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