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Article

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

European journal of medical genetics - 1 Aug 2015

Flöttmann Ricarda, Knaus Alexej, Zemojtel Tomasz, Robinson Peter N, Mundlos Stefan, Horn Denise, Spielmann Malte

Abstract excerpt

Pfeiffer syndrome (MIM: #101600) is a rare autosomal dominant disorder classically characterized by limb and craniofacial anomalies. It is caused by heterozygous mutations in the fibroblast growth factor receptors types 1 and 2 (FGFR1 and FGFR2). We applied a next generation sequencing (NGS) panel approach comprising all 2877 genes currently known to be causative for one or more Mendelian diseases combined with...

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Source

Identifiers

PMID: 26096994
DOI: 10.1016/j.ejmg.2015.05.007

Genes

FGFR2
FGFR1

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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