Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
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DOI: 10.1136/bcr-2018-228782
Abstract: 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… read more here.
Keywords: slc20a2 thap1; chromosome 8p11; brain; dystonia associated ... See more keywords