Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E et al.
Journal of Human Genetics, 2019
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2.
Chiriaco C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification.
Gagliardi M et al.
Journal of the Neurological Sciences, 2017
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
Gagliardi M et al.
Gene, 2015
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