SOX10mutation in Waardenburg syndrome type II
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference11 articles.
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2. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies;Bondurand;Hum Mol Genet,1999
3. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am J Hum Genet,2007
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1. A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child;Molecular Biology Reports;2024-04-20
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3. Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss;Otolaryngology–Head and Neck Surgery;2023-05
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5. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04
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