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Article

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.

Disease models & mechanisms - 1 May 2013

Martínez-Abadías Neus, Holmes Greg, Pankratz Talia, Wang Yingli, Zhou Xueyan, Jabs Ethylin Wang, Richtsmeier Joan T

Abstract excerpt

Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2). The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more frequent in patients carrying the S252W mutation. Taking advantage of Apert...

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Share to Acrocephalosyndactylia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

Source

Open in PubMed Open full text

Identifiers

PMID: 23519026
DOI: 10.1242/dmm.010397
PMCID: PMC3634659

Genes

FGFR2

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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From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.PMID 23519026Read ↗

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