AUTHOR=Huang Yufeng , Deng Wenyue , Huang Hui , Zhang Xiankai , Chen Xiaohong , Ye Jian , Luo Sukun , Yu Ting , Yao Hui , Du Hao , He Xuelian 

TITLE=Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1452498

DOI=10.3389/fgene.2024.1452498

ISSN=1664-8021