Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.
Gebus O et al.
Journal of Neurology, 2017
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Lemos RR et al.
Human Mutation, 2015
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