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.
作者信息
Au Patrick K C, Kwok Yvonne K Y, Leung K Y, Tang Linda Y F, Tang Mary H Y, Lau Elizabeth T
出版信息
Prenat Diagn. 2011 Feb;31(2):218-20. doi: 10.1002/pd.2672. Epub 2011 Jan 4.