Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease

por Liu, Yi-Dan, Tan, Dan-Dan, Song, Dan-Yu, Fan, Yan-Bin, Fu, Xiao-Na, Ge, Lin, Wei, Wei, Xiong, Hui
Publicado 2023

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients

por Chen, Xiao-Yu, Song, Dan-Yu, Fan, Yan-Bin, Tan, Dan-Dan, Chang, Xing-Zhi, Xiao, Jiang-Xi, Toda, Tatsushi, Xiong, Hui
Publicado 2021

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

por Wei, Cui-Jie, Chang, Xing-Zhi, Ge, Lin, Fu, Xiao-Na, Fan, Yan-Bin, Liu, Jie-Yu, Wang, Shuang, Li, Hai-Li, Yang, Yan-Ling, Xiong, Hui
Publicado 2020