Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6‐2
Author:
Publisher
Galenos Yayinevi
Subject
Neurology (clinical)
Reference4 articles.
1. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8;Bereshneh;Eur J Med Genet,2020
2. 2. Almatrafi A, Umair M, Eldardear A, et al. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations. J Gene Med 2020;22:e3196.
3. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination;Chelban;Eur J Neurol,2020
4. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination;Chelban;Am J of Hum Genet,2017
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