Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
Author:
Publisher
BMJ
Subject
General Medicine
Reference13 articles.
1. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54;Green;Am J Hum Genet,2010
2. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives;Bosch;Orphanet J Rare Dis,2012
3. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations;Ciccolella;J Med Genet,2013
4. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience;Jaeger;J Inherit Metab Dis,2016
5. Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients;Malafronte;Pediatr Dev Pathol,2013
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