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EDNRBmutations cause Waardenburg syndrome type II in the heterozygous state
UploadUnilateral Sensorineural Hearing Loss: Medical Context and Etiology
Download from www.karger.comPhenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Download from www.hal.inserm.frAn Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
Download from www.researchgate.netLoss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Download from www.hal.inserm.frScreening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
Download from dx.doi.orgAlu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
Download from www.nature.comReview and update of mutations causing Waardenburg syndrome.
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