Related Experiment Video

Updated: Jan 14, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

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[Clinical features and variant spectrum of FGFR3-related disorders]

Shi-Li Gu1, Ling-Wen Ying1, Guo-Ying Chang1

  • 1Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|October 22, 2025
PubMed

Insights

Achondroplasia (ACH) is the most common skeletal dysplasia linked to FGFR3 gene variants in children. FGFR3 activation levels correlate with disease severity, aiding in diagnosis.

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias
Abstract

Keywords:
AchondroplasiaChildFibroblast growth factor receptor 3Genetic variantSkeletal dysplasia

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