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

• প্রধান লেখক: Q.C. Wu (লেখক), W.B. Wang (লেখক), L. Sun (লেখক), Y.S. Xu (লেখক), X.J. Xie (লেখক), X.M. Ma (লেখক), Z.Y. Su (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: IMR Press, 2020-02-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...