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SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PS or SLC26A4 mutations. Two mutant...
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| Gepubliceerd in: | World J Otorhinolaryngol |
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| Hoofdauteurs: | , , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2013
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4423814/ https://ncbi.nlm.nih.gov/pubmed/25960948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5319/wjo.v3.i2.26 |
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