| 1 | GJB2, GJB6, KID, KID2
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| From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome
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| García IE, Bosen F, Mujica P, Pupo A, Flores-Muñoz C, Jara O, González C, Willecke K, Martínez AD.
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| J Invest Dermatol. Mar;136(3):574-583. doi: 10.1016/j.jid.2015.11.017. Epub 2016 Jan 8. 2016
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| 2 | GJB2, KID
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| Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
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| Levit NA, Mese G, Basaly MG, White TW.
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| Biochim Biophys Acta 1818(8):2014-9. doi: 10.1016/j.bbamem.2011.09.003. Epub 2011 Sep 10. Review.
2012
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| 3 | GJB2, KID
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| Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
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| Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, Nisticò S, Campione E, Napolitano B, Diluvio L, Melino G.
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| Biochem Biophys Res Commun 395(1):25-30. Epub 2010 Mar 20.
2010
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| 4 | KID
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| Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome.
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| Djalilian AR, Kim JY, Saeed HN, Holland EJ, Chan CC.
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| Eye (Lond) 24(4):738-40. Epub 2009 Jul 10. No abstract available.
2010
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| 5 | 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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| 6 | 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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| 7 | GJB2, KID
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| Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients.
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| Nyquist GG, Mumm C, Grau R, Crowson AN, Shurman DL, Benedetto P, Allen P, Lovelace K, Smith DW, Frieden I, Hybarger CP, Richard G.
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| Am J Med Genet A 143(7):734-41. 2007
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| 8 | 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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| 9 | KID, GJB2
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| KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
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| Bygum A, Betz RC, Kragballe K, Steiniche T, Peeters N, Wuyts W, Nothen MM.
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| Acta Derm Venereol 85(2):152-5. 2005
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| 10 | GJB2, KID
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| A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.
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| Montgomery JR, White TW, Martin BL, Turner ML, Holland SM.
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| J Am Acad Dermatol 51(3):377-82. 2004
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| 11 | GJB2, KID
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| De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome
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| Alvarez A, Del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC.
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| Am J Med Genet 117A(1):89-91. No abstract available. 2003
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| 12 | 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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| 13 | GJB2, KID
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| Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
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| Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.
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| Am J Hum Genet 70(5):1341-8. 2002
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| 14 | GJB2, KID
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| A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.
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| van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM.
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| J Invest Dermatol 118(4):724-7. 2002
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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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