Associated Papers
Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
Chen Z et al.
Frontiers in Pediatrics, 2026
Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia.
Chen Y et al.
Pediatric Blood & Cancer, 2023
BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.
Liu Z et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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