The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Huimin LiZhan QiLimin XieChanjuan HaoWei LiPublished in: Molecular genetics & genomic medicine (2024)
This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported MBOAT7 variants.