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Article

Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Jan 2011

Liu Ying-Na, Li Ru, Li Dong-Zhi

Abstract excerpt

Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from other skeletal dysplasia in utero by ultrasonography. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in th...

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Source

Identifiers

PMID: 20569165
DOI: 10.3109/14767058.2010.482621

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20569165-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.PMID 20569165Read ↗

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

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.Semantic proximity Read ↗

High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.Semantic proximity Read ↗

An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.Semantic proximity Read ↗

Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.Semantic proximity Read ↗

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.Semantic proximity Read ↗

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.Semantic proximity Read ↗

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.Semantic proximity Read ↗

Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.Semantic proximity Read ↗

Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.Semantic proximity Read ↗

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.Semantic proximity Read ↗

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