Article
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Pediatric research - 1 Apr 2024
Wang Jingjing, Yu Qinmei, Tang Xiaoxiao, Gordon Leslie B, Chen Junyi, Jiang Buchun, Huang Guoping, Fu Haidong, Qian Jianqin, Liu Zhihong, Mao Jianhua
Abstract excerpt
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. This study aims to investigate the epidemiological and genotypic characteristics of patients with HGPS/PL in China. METHODS: Using a cross-sectional study design, general characteristics and genotypic data of 46 patients with HGPS/PL from 17 provinces in China...
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