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Article

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.

Clinical genetics - 1 Jun 2016

Apra C, Collet C, Arnaud E, Di Rocco F

Abstract excerpt

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Topics

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Share to Adolescent
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Share to Craniofacial Dysostosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

Identifiers

PMID: 26841243
DOI: 10.1111/cge.12705

Genes

FGFR2

Provenance

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.PMID 26841243Read ↗

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 mutations in Pfeiffer syndrome.Semantic proximity Read ↗

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.Semantic proximity Read ↗

Effect on splicing of a silent FGFR2 mutation in Crouzon syndromeSemantic proximity Read ↗

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.Semantic proximity Read ↗

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.Semantic proximity Read ↗

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Semantic proximity Read ↗

A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.Semantic proximity Read ↗

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Semantic proximity Read ↗

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.Semantic proximity Read ↗

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.Semantic proximity Read ↗

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