A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

BACKGROUND: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. CASE PRESENTATION: This report describes a patient with W...

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Detalles Bibliográficos
Autores principales: Suzuki, Noriomi, Mutai, Hideki, Miya, Fuyuki, Tsunoda, Tatsuhiko, Terashima, Hiroshi, Morimoto, Noriko, Matsunaga, Tatsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966879/
https://www.ncbi.nlm.nih.gov/pubmed/29792164
http://dx.doi.org/10.1186/s12887-018-1139-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966879/
https://www.ncbi.nlm.nih.gov/pubmed/29792164
http://dx.doi.org/10.1186/s12887-018-1139-2

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