Associated Papers
Advances in the mechanism and therapies of achondroplasia.
Chen H et al.
Genes & Diseases, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
Genetic analysis of 55 cases with fetal skeletal dysplasia.
Bai Y et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.
Chaudhry C et al.
Laboratory Medicine, 2021
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
Meyer AN et al.
American Journal of Medical Genetics. Part A, 2021
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
Mellis R et al.
Prenatal Diagnosis, 2020
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.
Yao G et al.
Medicine, 2019
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Lindy AS et al.
American Journal of Medical Genetics. Part A, 2016
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
Hasegawa K et al.
American Journal of Medical Genetics. Part A, 2016
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2015
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Chitty LS et al.
Prenatal Diagnosis, 2015
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S et al.
European Journal of Human Genetics : Ejhg, 2006