Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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.
Almatrafi A et al.
The Journal of Gene Medicine, 2020
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V et al.
European Journal of Neurology, 2020
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi C et al.
Clinical Genetics, 2018
Select a paper to view details