A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
Sakamoto M, Kurosawa K, Tanoue K, Iwama K, Ishida F, Watanabe Y, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N.
Sakamoto M, et al. Among authors: tanoue k.
J Hum Genet. 2024 Feb;69(2):85-90. doi: 10.1038/s10038-023-01209-2. Epub 2023 Nov 30.
J Hum Genet. 2024.
PMID: 38030753