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5. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Lazic T; Li Q; Frank M; Uitto J; Zhou LH Pediatr Dermatol; 2012; 29(3):349-57. PubMed ID: 22011219 [TBL] [Abstract][Full Text] [Related]
6. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. Kelly B; Lozano A; Altenberg G; Makishima T Int J Dermatol; 2008 May; 47(5):443-7. PubMed ID: 18412859 [TBL] [Abstract][Full Text] [Related]
7. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. Arndt S; Aschendorff A; Schild C; Beck R; Maier W; Laszig R; Birkenhäger R Otol Neurotol; 2010 Feb; 31(2):210-5. PubMed ID: 20101161 [TBL] [Abstract][Full Text] [Related]
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9. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Griffith AJ; Yang Y; Pryor SP; Park HJ; Jabs EW; Nadol JB; Russell LJ; Wasserman DI; Richard G; Adams JC; Merchant SN Laryngoscope; 2006 Aug; 116(8):1404-8. PubMed ID: 16885744 [TBL] [Abstract][Full Text] [Related]
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11. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Koppelhus U; Tranebjaerg L; Esberg G; Ramsing M; Lodahl M; Rendtorff ND; Olesen HV; Sommerlund M Clin Exp Dermatol; 2011 Mar; 36(2):142-8. PubMed ID: 20846357 [TBL] [Abstract][Full Text] [Related]
12. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Janecke AR; Hennies HC; Günther B; Gansl G; Smolle J; Messmer EM; Utermann G; Rittinger O Am J Med Genet A; 2005 Mar; 133A(2):128-31. PubMed ID: 15633193 [TBL] [Abstract][Full Text] [Related]
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14. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? Lazic T; Horii KA; Richard G; Wasserman DI; Antaya RJ Pediatr Dermatol; 2008; 25(5):535-40. PubMed ID: 18950394 [TBL] [Abstract][Full Text] [Related]
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19. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. Wonkam A; Noubiap JJ; Bosch J; Dandara C; Toure GB BMC Med Genet; 2013 Aug; 14():81. PubMed ID: 23924173 [TBL] [Abstract][Full Text] [Related]
20. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. Montgomery JR; White TW; Martin BL; Turner ML; Holland SM J Am Acad Dermatol; 2004 Sep; 51(3):377-82. PubMed ID: 15337980 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]