Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

• Main Authors: Chih-Ping Chen (Author), Tung-Yao Chang (Author), Ming-Huei Lin (Author), Schu-Rern Chern (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• 格式: 图书
• 出版: Elsevier, 2013-09-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation because of advanced maternal age and sonograp...