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Article

Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.

Prenatal diagnosis - 1 Aug 2002

Chen Chih-Ping, Chern Schu-Rern, Chang Tung-Yao, Lin Chen-Ju, Wang Wayseen, Tzen Chin-Yuan

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptor, Fibroblast Growth Factor, Type 3

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 12210587
DOI: 10.1002/pd.377

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.PMID 12210587Read ↗

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 ↗

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.Semantic proximity Read ↗

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

A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.Semantic proximity Read ↗

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.Semantic proximity Read ↗

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.Semantic proximity Read ↗

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

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.Semantic proximity Read ↗

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

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.Semantic proximity Read ↗

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

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).Semantic proximity Read ↗

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