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PAX3 gene deletion detected by microarray analysis in a girl with hearing loss
Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023700/ https://www.ncbi.nlm.nih.gov/pubmed/24839464 http://dx.doi.org/10.1186/1755-8166-7-30 |