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Article

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.

Experimental and molecular pathology - 1 Apr 2017

Jung Minsun, Park Sung-Hye

Abstract excerpt

Thanatophoric dysplasia (TD), the most common lethal skeletal dysplasia, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. "Thanatophoric" means "dead bearing" in Greek. Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly. TD can be...

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Source

Identifiers

PMID: 28249712
DOI: 10.1016/j.yexmp.2017.02.019

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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