Guixiang Yao Guangxin Wang Dawei Wang Guohai Su
10.1097/MD.0000000000014157
Medicine (Baltimore)
2019 Jan;98(4):e14157.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30681580/
Bone and Bones / abnormalities Dwarfism / genetics Limb Deformities, Congenital / genetics Lordosis / genetics Mutation, Missense / genetics Pedigree Receptor, Fibroblast Growth Factor, Type 3 / genetics Sequence Analysis / methods
Bone and Bones / abnormalities Dwarfism / genetics Limb Deformities, Congenital / genetics Lordosis / genetics Mutation, Missense / genetics Pedigree Receptor, Fibroblast Growth Factor, Type 3 / genetics Sequence Analysis / methods Case Reports Review Adult Asian People / genetics Child Female Gene Frequency Heterozygote Humans Male Molecular Docking Simulation Phenotype FGFR3 protein, human Receptor, Fibroblast Growth Factor, Type 3 Hypochondroplasia
PMC6358355
30681580
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review
2019