AUTHOR=Wang Yao , Guo Jing , Zhang Peiqi , Liu Fang , Li Hua 

TITLE=Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review

JOURNAL=Frontiers in Genetics

VOLUME=16

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1528563

DOI=10.3389/fgene.2025.1528563

ISSN=1664-8021