טוען...
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
BACKGROUND: POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and cerebellar symptoms, as well as mild cognitive reg...
שמור ב:
| הוצא לאור ב: | BMC Pediatr |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6704677/ https://ncbi.nlm.nih.gov/pubmed/31438894 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1656-7 |
| תגים: |
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