Connexin mutations in Brazilian patients with skin disorders with or without hearing loss
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. G59S mutation in GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome;Alexandrino;Am J Med Genet Part A,2005
2. Connections with connexins: The molecular basis of direct intercellular signaling;Bruzzone;Eur J Biochem,1996
3. Clinical and Genetic hoterogeneity of erythrokeratoderma variabilis;Common;J Invest Dermatol,2005
4. A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;Del Castillo;J Med Genet,2005
5. Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31;Di;J Invest Dermatol,2001
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2. Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva;International Journal of Molecular Sciences;2022-01-01
3. Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4;Experimental Dermatology;2021-11-07
4. Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms;Frontiers in Genetics;2021-01-27
5. GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana;Experimental Biology and Medicine;2020-06-11
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