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Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene

Guo, YF; Su, QY; Zhu, XY; Wang, JD; Lou, YT; Miao, P; Wang, Y; Zhang, BJ; Jin, YT; Gao, LY; Xu, XX; Chen, WY; Sheng, M; Feng, JH

Feng, JH (通讯作者),Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Pediat, Hangzhou, Zhejiang, Peoples R China.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 836

Abstract

Giant axonal neuropathy (GAN) is a progressive disease that involves the peripheral and central nervous systems. This neurodegenerative disease is cau......

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