Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Cui LM et al.
Molecular Genetics & Genomic Medicine, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2024
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
Terasawa S et al.
Congenital Anomalies, 2019
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
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I et al.
Human Genome Variation, 2018
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 Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2015
APOBEC family mutational signatures are associated with poor prognosis translocations in multiple myeloma.
Walker BA et al.
Nature Communications, 2015
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 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
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
Song SH et al.
American Journal of Medical Genetics. Part A, 2012
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
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
Friez MJ et al.
European Journal of Human Genetics : Ejhg, 2008
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