A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N.
Sakamoto M, et al. Among authors: shiiki t.
J Hum Genet. 2023 Apr;68(4):247-253. doi: 10.1038/s10038-022-01098-x. Epub 2022 Dec 13.
J Hum Genet. 2023.
PMID: 36509868