Associated Papers
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Yektay Farahmand M et al.
Neurologia I Neurochirurgia Polska, 2024
Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
Shen Y et al.
Frontiers in Genetics, 2021
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
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