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Article

Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.

Fetal and pediatric pathology - 1 Jun 2012

Yang Yu, Liu Ying-Na, Li Dong-Zhi

Abstract excerpt

Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4. Accurate diagnosis of fetal TD is important for patient counseling and to plan the management. A definite diagnosis can be established by molecular genetic analysis to find out the...

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Source

Identifiers

PMID: 22414243
DOI: 10.3109/15513815.2011.648720

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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