| 1 | GJB2, KHM2
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| D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
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| Qiu Y, Wang Z, Chen N, Song Y, Wang Z, Zhang L.
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| Indian J Dermatol Venereol Leprol 78(5):640-2. doi: 10.4103/0378-6323.100595. No abstract available.
2012
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| 2 | GJB2, KHM2, KID
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| Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
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| Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
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| Am J Med Genet A 152A(7):1798-802.PMID: 20583176 2010
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| 3 | GJB2, HID, KHM2, KID
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| A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
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| de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.
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| J Med Genet 45(3):161-6. Epub 2007 Nov 9. 2008
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| 4 | GJB2, KHM2
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| A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
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| Akiyama M, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H.
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| J Invest Dermatol 127(6):1540-3. Epub 2007 Jan 25. No abstract available.
2007
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| 5 | GJB2, DFNA3, KHM2
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| Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
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| Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.
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| Clin Genet 68(2):161-6. 2005
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| 6 | DFNA3, DFNB1, GJB2, HID, KHM2, KID
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| Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
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| Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A.
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| Hum Mol Genet 12(8):805-12. 2003
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| 7 | GJB2, KHM2
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| The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
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| Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.
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| Clin Genet 62(4):306-9. 2002
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| 8 | GJB2, HID, KHM2, KID
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| A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis.
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| Heathcote K, Syrris P, Carter ND, Patton MA.
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| J Med Genet 37(1):50-1 2000
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| 9 | GJB2, HID, KHM2, KID
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| Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
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| Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM.
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| Eur J Hum Genet 8(2):141-4. 2000
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| 10 | GJB2, KHM2
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| A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
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| Maestrini E, et al.
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| Hum Mol Genet 8(7):1237-1243. 1999
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| 11 | DFNA3, DFNB1, GJB2, KHM2
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| Cx26 deafness: mutation analysis and clinical variability.
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| Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F.
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| J Med Genet 36(11):829-32 1999
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| 12 | GJB2, HID, KHM2, KID
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| Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
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| Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ.
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| Hum Genet 103(4):393-9 1998
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