Annual review of physiology
Pathophysiology of Primary Familial Brain Calcification.
Annika Keller
Published: 202510.1146/annurev-physiol-050624-092133
Abstract
Primary familial brain calcification (PFBC) is a dominantly or recessively inherited neurodegenerative disease characterized by bilateral basal ganglia calcifications. Patients affected by PFBC present with diverse motor and nonmotor symptoms. Mutati…
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