| 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, EKV, PNHI, DFNAC
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| Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
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| Unsworth HC, Aasen T, McElwaine S, Kelsell DP.
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| Hum Mol Genet 16(2):165-72. Epub 2006 Dec 1. 2007
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| 4 | 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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| 5 | 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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| 6 | DFNAC, EKV, GJB3
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| A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
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| Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.
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| Hum Mol Genet 11(11):1311-6. 2002
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| 7 | 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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| 8 | EKV, GJB3
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| The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
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| Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J.
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| Hum Genet 106(3):321-9. 2000
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| 9 | 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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| 10 | EKV, GJB3
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| Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
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| Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP.
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| J Invest Dermatol 113(6):1119-22. 1999
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| 11 | EKV, GJB3, GJB5
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| Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
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| Richard G, et al.
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| Nat Genet 20(4):366-9. 1998
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| 12 | EKV
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| Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
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| Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ.
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| J Invest Dermatol 109(5):666-71. 1997
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| 13 | EKV
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| Further evidence for localization of the gene of erythrokeratodermia variabilis.
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| Van der Schroeff JG, et al.
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| Hum Genet 80 : 97-98. 1988
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| 14 | EKV
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| Genetic linkage between erythrokeratodermia variabilis and Rh locus.
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| Van der Schroeff JG, et al.
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| Hum Genet 68 : 165-168. 1984
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