Article
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2024
Wu Jingying, Cheng Xin, Ji Duxin, Niu Huiwen, Yao Songquan, Lv Xukun, Wang Jianqiang, Li Ziyi, Zheng Haoran, Cao Yuwen, Zhan Feixia, Zhang Mengyuan, Tian Wotu, Huang Xiaojun, Luan Xinghua, Cao Li
Abstract excerpt
BACKGROUND: Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated. OBJECTIVE: The objective of the study is to clarify the core features and influence factors of CRD patients in China. METHODS: Clinical and genetic-related data of CRD patients in China were collected....
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