Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ.
Rutten JW, et al. Among authors: dijkstra kl.
Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print.
Genet Med. 2024.
PMID: 38430071
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