AUTHOR=Ouyang Lixue , Yang Fan , Duan Hongyu , Wang Chuan 

TITLE=Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1453195

DOI=10.3389/fgene.2024.1453195

ISSN=1664-8021