A carregar...
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...
Na minha lista:
| Publicado no: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5966879/ https://ncbi.nlm.nih.gov/pubmed/29792164 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1139-2 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|