Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.
Liu Y et al.
Cancers, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Insights of fibroblast growth factor receptor 3 aberrations in pan-cancer and their roles in potential clinical treatment.
Li J et al.
Aging, 2021
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
Sabir AH et al.
American Journal of Medical Genetics. Part A, 2021
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
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I et al.
Human Genome Variation, 2018
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2015
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2013
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.
Saito T et al.
American Journal of Medical Genetics. Part A, 2012
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR et al.
Clinical Genetics, 2009
Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.
Zhang SR et al.
Chinese Medical Journal, 2007
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
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005