Article
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Orphanet journal of rare diseases - 27 Jan 2024
Zhang XinZhong, Jiang Shan, Zhang Rui, Guo Siyi, Sheng Qiqi, Wang Kaili, Shan Yuanyuan, Liao Lin, Dong Jianjun
Abstract excerpt
AIM: Achondroplasia is the most common of the skeletal dysplasias that cause fatal and disabling growth and developmental disorders in children, and is caused by a mutation in the fibroblast growth factor receptor, type 3 gene(FGFR3). This study aims to analyse the clinical characteristics and gene mutations of ACH to accurately determine whether a patient has ACH and to raise public awareness of the disease....
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