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Cerebral calcification
- ... mutations have been found to cause primary familial brain calcification. This condition is characterized by abnormal deposits of ... Most of the mutations that cause primary familial brain calcification change single protein building blocks (amino acids) in ...
- ... gene have been found to cause primary familial brain calcification. This condition is characterized by abnormal deposits of ... unclear how PDGFRB gene mutations cause primary familial brain calcification. The altered signaling may result in an abnormally ...
- ... tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011 Feb;43(2): ...
- ... Condition MedlinePlus Genetics provides information about Primary familial brain calcification More About This Health Condition becaplermin c-sis ...
- ... Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. ...
- ... Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. ...
- ... maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012 Mar ...