| 1 | 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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| 2 | GJB2, HID, KID
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| GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
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| Janecke AR, Hennies HC, Gunther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O.
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| Am J Med Genet A 133(2):128-31. 2005
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| 3 | 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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| 4 | HID, KID, GJB2
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| HID and KID syndromes are associated with the same connexin 26 mutation.
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| van Geel M, van Steensel MA, Kuster W, Hennies HC, Happle R, Steijlen PM, Konig A.
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| Br J Dermatol 146(6):938-42. 2002
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| 5 | GJB2, HID, KID
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| HID and KID syndromes are associated with the same connexin 26 mutation.
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| van Geel M, van Steensel MA, Küster W, Hennies HC, Happle R, Steijlen PM, König A.
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| Br J Dermatol 146(6):938-42.
2002
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| 6 | 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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| 7 | 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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| 8 | 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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