AUTHOR=Zheng Haoyang , Chen Gui , Wang Tingting , Cheng Weisheng , Yuan Jing , Liu Fang , Xu Yuanhong 

TITLE=Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay

JOURNAL=Frontiers in Genetics

VOLUME=16

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1512070

DOI=10.3389/fgene.2025.1512070

ISSN=1664-8021