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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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書目詳細資料
發表在:J Basic Clin Physiol Pharmacol
Main Authors: Sokolov, Meirav, Brownstein, Zippora, Frydman, Moshe, Avraham, Karen B.
格式: Artigo
語言:Inglês
出版: 2014
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在線閱讀: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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