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Article

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Human genetics - 1 Feb 2024

Schmidt Julia, Kaulfuß Silke, Ott Hagen, Gaubert Marianne, Reintjes Nadine, Bremmer Felix, Dreha-Kulaczewski Steffi, Stroebel Philipp, Yigit Gökhan, Wollnik Bernd

Abstract excerpt

The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family, FGFR2 is a key regulator in many biological processes, e.g., cell proliferation, tumorigenesis, metastasis, and angiogenesis. Heterozygous activating non-mosaic germline variants in FGFR2 have been linked to numerous autosomal dominantly inherited disorders including several...

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Identifiers

PMID: 38265560
DOI: 10.1007/s00439-023-02634-1
PMCID: PMC10881730

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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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