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2. 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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6. 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]
7. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Yotsumoto S; Hashiguchi T; Chen X; Ohtake N; Tomitaka A; Akamatsu H; Matsunaga K; Shiraishi S; Miura H; Adachi J; Kanzaki T Br J Dermatol; 2003 Apr; 148(4):649-53. PubMed ID: 12752120 [TBL] [Abstract][Full Text] [Related]
8. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. van Steensel MA; van Geel M; Nahuys M; Smitt JH; Steijlen PM J Invest Dermatol; 2002 Apr; 118(4):724-7. PubMed ID: 11918723 [TBL] [Abstract][Full Text] [Related]
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]
14. Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome. Natsuga K; Shinkuma S; Kanda M; Suzuki Y; Chosa N; Narita Y; Setoyama M; Nishie W; Akiyama M; Shimizu H Br J Dermatol; 2012 Apr; 166(4):903-5. PubMed ID: 21999526 [No Abstract] [Full Text] [Related]
15. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. Todt I; Mazereeuw-Hautier J; Binder B; Willems PJ Clin Genet; 2009 Oct; 76(4):404-8. PubMed ID: 19793313 [TBL] [Abstract][Full Text] [Related]
16. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation. Zhang XB; Wei SC; Li CX; Xu X; He YQ; Luo Q; Li J; Wang YF Clin Exp Dermatol; 2009 Apr; 34(3):309-13. PubMed ID: 19175781 [TBL] [Abstract][Full Text] [Related]
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18. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Neoh CY; Chen H; Ng SK; Lane EB; Common JE Int J Dermatol; 2009 Oct; 48(10):1078-81. PubMed ID: 19785089 [TBL] [Abstract][Full Text] [Related]
19. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Arita K; Akiyama M; Aizawa T; Umetsu Y; Segawa I; Goto M; Sawamura D; Demura M; Kawano K; Shimizu H Am J Pathol; 2006 Aug; 169(2):416-23. PubMed ID: 16877344 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]