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BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.
Liu Z, Peng Q, Li J, Rao C, Lu X. Liu Z, et al. Clin Chim Acta. 2021 Dec;523:402-406. doi: 10.1016/j.cca.2021.10.031. Epub 2021 Oct 28. Clin Chim Acta. 2021. PMID: 34737166
BACKGROUND: Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is a rare autosomal recessive neurological disorder caused by mutations in the SLC52A2 gene, which is characterized by early childhood onset of sensorineural hearing loss, bulbar pa …
BACKGROUND: Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is a rare autosomal recessive neurologica …