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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | World J Otorhinolaryngol |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2013
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| Θέματα: | |
| Διαθέσιμο Online: | 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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