Sofou K et al. Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.EMBO Mol Med. 2021;13(5):e13376. PMID: 33938619.
Yıldız Y et al. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.Clin Genet. 2021;100(3):308-317. PMID: 34013567.
VPS16 autosomal recessive