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

• 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.

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...