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Article

Sacral appendage associated with a mutation in FGFR2.

Clinical dysmorphology - 1 Jul 2002

Sweeney Elizabeth, Ellis Ian, May Paul

Abstract excerpt

We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2). This is the first report of sacral appendage associated with a confirmed mutation in one of the FGFR genes, and adds to the spectrum of abnormalities which can be seen in patients with FGFR mutations.

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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

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Source

Identifiers

PMID: 12072807
DOI: 10.1097/00019605-200207000-00016

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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