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Article

[Clinical features and FGFR3 mutations of children with achondroplasia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Apr 2022

Zhang Hui-Qin, Tao Dong-Ying, Zhang Jing-Jing, Niu Huan-Hong, Luo Jian-Feng, Cheng Sheng-Quan

Abstract excerpt

OBJECTIVES: To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases. METHODS: A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021. RESULTS: Of the 17 children with ACH, common clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35527416
DOI: 10.7499/j.issn.1008-8830.2111039
PMCID: PMC9044984

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