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Article

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

American journal of medical genetics. Part A - 1 Jun 2016

Fernandes Marilyse B L, Maximino Luciana P, Perosa Gimol B, Abramides Dagma V M, Passos-Bueno Maria Rita, Yacubian-Fernandes Adriano

Abstract excerpt

Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery...

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Identifiers

PMID: 27028366
DOI: 10.1002/ajmg.a.37640

Genes

FGFR2

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