Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
Abstract Background Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two nov...
Kaydedildi:
| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2023-10-01
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| Seri Bilgileri: | BMC Neurology |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s12883-023-03398-x |
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