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Brown-Vialetto-Van Laere syndrome.
Sathasivam S. Sathasivam S. Orphanet J Rare Dis. 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. Orphanet J Rare Dis. 2008. PMID: 18416855 Free PMC article. Review.
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. ...Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining c …
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associate …
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Mol Med Rep. 2016. PMID: 27666661 Free PMC article. Review.
Multiple cafe-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation s …
Multiple cafe-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary di …