Associated Papers
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.
Suzuki N et al.
Bmc Pediatrics, 2018
29792164 (PubMed )
Supplement: 12887_2018_1139_MOESM5_ESM.docx
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Gurgel-Giannetti J et al.
Muscle & Nerve, 2012
SOX10 mutation with peripheral amyelination and developmental disturbance of axons.
Parthey K et al.
Muscle & Nerve, 2012
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