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

• Autori principali: Q.C. Wu (Autore), W.B. Wang (Autore), L. Sun (Autore), Y.S. Xu (Autore), X.J. Xie (Autore), X.M. Ma (Autore), Z.Y. Su (Autore)
• Natura: Libro
• Pubblicazione: IMR Press, 2020-02-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...