AUTHOR=Zhu Juan , Yu Hong-Ping , Zou Jing , Zhang Yi-Wu , Han Xin-Qi , Xu Zi-Yan , Chen Li , Chen Qian , Gao Mei-Zhu , Xie Li-Jun , Zhang Xi-Kui , Luo Jie-Wei , Li Yun-Fei , Zhang Li 

TITLE=Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

JOURNAL=Frontiers in Genetics

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1514610

DOI=10.3389/fgene.2025.1514610

ISSN=1664-8021