Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
Khojasteh M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Cen Z et al.
Brain : a Journal of Neurology, 2020
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