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

doi:10.1016/j.yexmp.2017.02.019

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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...

Topics

Adult
Autopsy
Exons
Female
Fetus
Genotype
Gestational Age
Humans
Mutation, Missense
Phenotype
Receptor, Fibroblast Growth Factor, Type 3
Skull
Thanatophoric Dysplasia

Source

Open in PubMed

Identifiers

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

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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