A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference24 articles.
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2. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness;Brown;J Invest Dermatol,2003
3. Connections with connexins: The molecular basis of direct intercellular signaling;Bruzzone;Eur J Biochem,1996
4. The role of connexins in human disease;Chang;Ear Hearing,2003
5. Clinical phenotype and mutations in connexin 26(DFNB1/GJB2), the most common cause of childhood hearing loss;Cohn;Am J Med Genet,1999
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3. Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report;Journal of the European Academy of Dermatology and Venereology;2022-04-27
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