Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination

Volume: 27, Issue: 2, Pages: 334 - 342
Published: Oct 17, 2019
Abstract
Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy.Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6-2 mutations in a multicentre setting is...
Paper Details
Title
Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination
Published Date
Oct 17, 2019
Volume
27
Issue
2
Pages
334 - 342
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