Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.2672/fullpdf
Reference10 articles.
1. Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma;Chiu;Clin Chem,2001
2. Birth prevalence study of the Apert syndrome;Cohen;Am J Med Genet,1992
3. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound;David;Prenat Diagn,2007
4. Prenatal ultrasonographic and molecular diagnosis of Apert syndrome;Filkins;Prenat Diagn,1997
5. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis;Kan;Am J Hum Genet,2002
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