Associated Papers
Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.
Li P et al.
Human Molecular Genetics, 2025
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
Udhayabanu T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA et al.
Journal of Human Genetics, 2012
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