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Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness
BACKGROUND: Connexin 26 (GJB2) mutations are associated with various types of hearing loss, either without associated symptoms or with skin disease, constituting a form of syndromic hearing loss. These mutations can lead to deafness in either a recessive or a dominant autosomal form of inheritance....
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| 出版年: | J Basic Clin Physiol Pharmacol |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5916754/ https://ncbi.nlm.nih.gov/pubmed/25153233 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/jbcpp-2014-0053 |
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