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Article

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.

Colombia medica (Cali, Colombia) - 30 Sept 2015

Torres Lilian, Hernández Gualberto, Barrera Alejandro, Ospina Sandra, Prada Rolando

Abstract excerpt

INTRODUCTION: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. METHODS: Members of two families with an index case of Apert Syndrome were assessed to describe relevant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26600631
PMCID: PMC4640438

Genes

FGFR2

Variants

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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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