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4. 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]
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9. KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Bygum A; Betz RC; Kragballe K; Steiniche T; Peeters N; Wuyts W; Nöthen MM Acta Derm Venereol; 2005; 85(2):152-5. PubMed ID: 15823911 [TBL] [Abstract][Full Text] [Related]
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11. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Jonard L; Feldmann D; Parsy C; Freitag S; Sinico M; Koval C; Grati M; Couderc R; Denoyelle F; Bodemer C; Marlin S; Hadj-Rabia S Eur J Med Genet; 2008; 51(1):35-43. PubMed ID: 18024254 [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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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]