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Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

Several genes located within the chromosome 8p11.21 region are associated with movement disorders including SLC20A2 and THAP1. SLC20A2 is one of four genes associated with primary familial brain calcification, a syndrome that also includes movement disorders, cognitive decline and psychiatric issues...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Mu, Weiyi, Tochen, Laura, Bertsch, Caroline, Singer, Harvey S, Barañano, Kristin W
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6536165/
https://ncbi.nlm.nih.gov/pubmed/31133547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-228782
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