Second trimester molecular diagnosis of a stop codonFGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference10 articles.
1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
2. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
3. Second-trimester molecular diagnosis of a heterozygous 742C → T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings
4. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.
5. Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts
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1. Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia;Taiwanese Journal of Obstetrics and Gynecology;2018-02
2. 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 and Gynecology;2017-02
3. Thanatophoric Dysplasia;Atlas of Genetic Diagnosis and Counseling;2017
4. Thanatophoric Dysplasia;Atlas of Genetic Diagnosis and Counseling;2015
5. 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;Taiwanese Journal of Obstetrics and Gynecology;2013-09
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