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Article

Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.

Journal of craniofacial genetics and developmental biology - 1 Jan 2000

Tsukuno M, Suzuki H, Eto Y

Abstract excerpt

Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the...

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Source

Identifiers

PMID: 10731087

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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