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
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Donkervoort S et al.
Neurology. Genetics, 2017
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