Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause
Hypomyelinating leukodystrophies are heterogeneous genetic diseases with a wide phenotypic spectrum. Diagnosis and classification are often impaired by unspecific clinical and imaging features. A 16-year-old boy from Syria is described with spastic ataxia 8 (SPAX8, MIM: 617,560) caused by a novel ho...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-06-01
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| Series: | Brain Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666459321000056 |