Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

Autor: Xiaofen Zhu, Hanqiao Ming, Zhiyuan Ouyang, Xueli Cai, Weiguo Tang, Manlian Zhu, Daqiao Song, Gonghua Pan, Feng Fu, Xiaoyi Lu, Peiying Meng, Zixian Luo, Wenhai Chen, Zhidong Cen, Chenglong Wu, Enkui Xia, Si Chen, Na Zhao, Zilong Chen, Binglan Wang, Haijun Li, Jieying Li, Xuzhen Zhu, Xiaosheng Zheng, Danhong Zhang, Yan Zhou, Huayun Huang, Shaowei Fu, Yunqian Zhang, Lili Yin, Haotian Wang, Shuhong Zhang, Haiyan Tang, You Chen, Wei Luo, Qun Gu, Kaiyu Zhang, Xinxiao Wu, Yong Luo, Zhijun Xu, Fei Xie, Feng Wang, Weiying Li, Hongwei Wu, Dehao Yang, Yi Tan, Xiaoluo Zhang, Aimin Shao, Hongwei Zhang, Yanbin Huang, Likang Lan, Lifeng Zhou, Mengjia Lian, Feifei Jiang, Yaxi Zhang, Yongkun Su, Li Ma, Minfang Lou, Zhiping Zhou, Juping He, Weijun Hong, Jing-Yu Liu, Haoyu Hu, Xuerong Huang, Xinhui Chen, Weiqing Chen

Publikováno v: Parkinsonismrelated disorders. 64

Background Primary familial brain calcification (PFBC) is a rare calcifying disorder of the brain with extensive clinical and genetic heterogeneity. Its prevalence is underestimated due to clinical selection bias (compared with symptomatic PFBC patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53992368c66e0ed67c0d7efd6f42826c
https://pubmed.ncbi.nlm.nih.gov/31003906