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References

1. Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.Autosomal dominant prelingual hearing loss with palmoplantar keratodermasyndrome: Variability in clinical expression from mutations of R75W and R75Q inthe GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi:10.1002/ajmg.a.33464.
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3. de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet.2008 Mar;45(3):161-6.
4. de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, vanSteensel MA. A novel missense mutation in the second extracellular domain ofGJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma withdeafness. Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049.
5. Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-RabiaS, Petit C, Couderc R, Garabédian EN, Marlin S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma withdeafness. Am J Med Genet A. 2005 Aug 30;137(2):225-7.
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7. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. ExpertRev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review.
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9. Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B. Phenotypic variants of the deafness-associatedmitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. Review.
10. Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024.
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