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Article

Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient.

Biochimica et biophysica acta - 1 Feb 2009

Rieckmann Thorsten, Zhuang Lei, Flück Christa E, Trueb Beat

Abstract excerpt

Fibroblast growth factor receptor-like 1 (FGFRL1) is a recently discovered transmembrane protein whose functions remain unclear. Since mutations in the related receptors FGFR1-3 cause skeletal malformations, DNA samples from 55 patients suffering from congenital skeletal malformations and 109 controls were searched for mutations in FGFRL1. One patient was identified harboring a frameshift mutation in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19056490
DOI: 10.1016/j.bbadis.2008.11.006

Genes

FGFRL1
FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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