AUTHOR=Zhu Yuying , Wu Ke , Wen Hanying 

TITLE=Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

JOURNAL=Frontiers in Pediatrics

VOLUME=13

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1494530

DOI=10.3389/fped.2025.1494530

ISSN=2296-2360