Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K.
Kawashima A, et al. Among authors: takayama j.
Am J Med Genet A. 2024 May 17:e63656. doi: 10.1002/ajmg.a.63656. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38760879
Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long-term observational studies of patients with heterozygous KIF1A variants. ...The median follow-up period was 30 years (4-44 years). This l …
Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long-t …