Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I

• Main Authors: Q.C. Wu (Author), W.B. Wang (Author), L. Sun (Author), Y.S. Xu (Author), X.J. Xie (Author), X.M. Ma (Author), Z.Y. Su (Author)
• Format: Book
• Published: IMR Press, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses. Materials and Methods: Eight cases of severe fetal short-limb dwarfism detected by antenatal ultra...