Prenatal diagnosis of Apert syndrome
โ
Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Ch
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 208 KB
๐ 2 views
Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum