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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within t...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407046/ https://www.ncbi.nlm.nih.gov/pubmed/22848661 http://dx.doi.org/10.1371/journal.pone.0041927 |