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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

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...

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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)
Format:	Book
Published:	Elsevier, 2013-09-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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