A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

MLA

Sakamoto, Masamune, et al. “A Novel Homozygous CHMP1A Variant Arising from Segmental Uniparental Disomy Causes Pontocerebellar Hypoplasia Type 8.” Journal of Human Genetics, vol. 68, no. 4, Apr. 2023, pp. 247–53. EBSCOhost, https://doi.org/10.1038/s10038-022-01098-x.

APA

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. (2023). A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of Human Genetics, 68(4), 247–253. https://doi.org/10.1038/s10038-022-01098-x

Chicago

Sakamoto, Masamune, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, et al. 2023. “A Novel Homozygous CHMP1A Variant Arising from Segmental Uniparental Disomy Causes Pontocerebellar Hypoplasia Type 8.” Journal of Human Genetics 68 (4): 247–53. doi:10.1038/s10038-022-01098-x.