Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Pavlova EV, Lev D, Michelson M, Yosovich K, Michaeli HG, Bright NA, Manna PT, Dickson VK, Tylee KL, Church HJ, Luzio JP, Cox TM.
Pavlova EV, et al.
Hum Mutat. 2022 Dec;43(12):2265-2278. doi: 10.1002/humu.24479. Epub 2022 Oct 8.
Hum Mutat. 2022.
PMID: 36153662
Free PMC article.
We describe an attenuated juvenile form of VPS33A-related syndrome-mucopolysaccharidosis plus in a man who is homozygous for a hitherto unknown missense mutation (NM_022916.4: c.599 G>C; NP_075067.2:p. Arg200Pro) in a conserved region of the VPS33A gene. Urinary glycosa …
We describe an attenuated juvenile form of VPS33A-related syndrome-mucopolysaccharidosis plus in a man who is homozygous for a hitherto unkn …