| 1 | EKV, GJB4, PSEK2
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| The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
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| van Steensel MA, Oranje AP, van der Schroeff JG, Wagner A, van Geel M.
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| Am J Med Genet A 149A(4):657-61. 2009
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| 2 | EKV, GJB4
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| Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
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| Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H.
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| Br J Dermatol 161(2):452-5. Epub 2009 Mar 30.
2009
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| 3 | GJB3, GJB4, EKV
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| A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
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| Morley SM, White MI, Rogers M, Wasserman D, Ratajczak P, McLean WH, Richard G.
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| Br J Dermatol 152(6):1143-8. 2005
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| 4 | EKV, GJB4
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| Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
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| Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP.
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| J Invest Dermatol 125(5):920-7.
2005
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| 5 | GJB4
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| Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
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| Plantard L, Huber M, Macari F, Meda P, Hohl D.
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| Hum Mol Genet 12(24):3287-94. Epub 2003 Oct 28. 2003
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| 6 | EKV, GJB4
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| Connexin mutations in skin disease and hearing loss.
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| Kelsell DP, Di WL, Houseman MJ.
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| Am J Hum Genet 68(3):559-68. Review. No abstract available. 2001
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| 7 | EKV, GJB4
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| Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
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| Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M.
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| Am J Hum Genet 67(5):1296-301. 2000
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| 8 | GJB4
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| Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin.
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| Hennemann H, Dahl E, White JB, Schwarz HJ, Lalley PA, Chang S, Nicholson BJ, Willecke K.
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| J Biol Chem 267(24):17225-33. 1992
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