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Article

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].

Anales espanoles de pediatria - 1 Dec 1999

Arroyo Carrera I, Martínez-Frías M L, Marco Pérez J J, Paisán Grisolía L, Cárdenes Rodríguez A, Nieto Conde C, Félix Rodríguez V, Egüés Jimeno J J, Morales Fernández M C, Gómez-Ullate Vergara J, Pardo Romero M, Peñas Valiente A, Oliván del Cacho M J, Lara Palma A

Abstract excerpt

OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, ce...

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Identifiers

PMID: 10666902

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10666902-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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