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A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients
BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and...
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| Publicat a: | Chin Med J (Engl) |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Medknow Publications & Media Pvt Ltd
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5887738/ https://ncbi.nlm.nih.gov/pubmed/29578123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.228245 |
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