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Article

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.

Taiwanese journal of obstetrics & gynecology - 1 Feb 2017

Chen Shin-Wen, Chen Chih-Ping, Wang Liang-Kai, Chern Schu-Rern, Wu Pei-Chen, Chen Yen-Ni, Lin Chen-Ju, Chen Wen-Ling, Wang Wayseen

Abstract excerpt

OBJECTIVE: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. CASE REPORT: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Pregnancy Trimester, Second

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Sequence Analysis, DNA

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 28254233
DOI: 10.1016/j.tjog.2016.12.013

Genes

FGFR3

Variants

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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