Associated Papers
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2024
Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.
Ryu D et al.
International Journal of Molecular Sciences, 2023
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
Nagata T et al.
Molecular Genetics & Genomic Medicine, 2020
Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Y et al.
Prenatal Diagnosis, 2018
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
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
Manickam K et al.
American Journal of Medical Genetics. Part A, 2014
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
Rump P et al.
American Journal of Medical Genetics. Part A, 2006
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