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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

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 exam...

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Main Authors:	Shin-Wen Chen (Author), Chih-Ping Chen (Author), Liang-Kai Wang (Author), Schu-Rern Chern (Author), Pei-Chen Wu (Author), Yen-Ni Chen (Author), Chen-Ju Lin (Author), Wen-Ling Chen (Author), Wayseen Wang (Author)
Format:	Book
Published:	Elsevier, 2017-02-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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