Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients
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DOI: 10.1007/s12031-019-01430-9
Abstract: Primary familial brain calcification (PFBC), widely known as Fahr’s disease, is a rare disorder caused by pathogenic variants in SLC20A2 , PDGFB , PDGFRB , XPR1 , or MYORG genes. It is characterized by ectopic… read more here.
Keywords: primary familial; brain calcification; pfbc; gene ... See more keywords