山梨大学医学部小児科学教室

症例報告：Yagasaki H, Sano F, Narusawa H, Watanabe D, Kaga Y, Kobayashi K, Asano Y, Nagata M, Yonei A, Inukai T. Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. Am J Med Genet A. 2022 Aug;188(8):2466-2471. doi: 10.1002/ajmg.a.62873. Epub 2022 Jun 15. PMID: 35703918.