Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts
Abstract Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene. Methods Clinical data such as magnetic resonance imaging...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wiley
2024-02-01
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| Серии: | Molecular Genetics & Genomic Medicine |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1002/mgg3.2394 |
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