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PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child
Hypomyelinating leukodystrophy (HLD) represents a group of clinically overlapping but genetically heterogeneous diseases. This group of disorders has the improper formation of myelin sheaths in the central nervous system (CNS), resulting in abnormal white matter, with characteristic MRI findings and...
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| Publicado no: | Cureus |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8143271/ https://ncbi.nlm.nih.gov/pubmed/34055512 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.14661 |
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