Associated Papers
Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
Al-Bustanji R et al.
Medicine, 2025
Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.
Patrón-Romero L et al.
American Journal of Medical Genetics. Part A, 2025
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Paller AS et al.
The British Journal of Dermatology, 2025
Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
Caragli V et al.
Genes, 2025
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K et al.
Ophthalmic Genetics, 2024
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Cochlear implantation in child with keratitis-ichthyosis-deafness syndrome: A case report.
Wang SP et al.
Asian Journal of Surgery, 2023
Conformational changes and CO2-induced channel gating in connexin26.
Brotherton DH et al.
Structure (london, England : 1993), 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Bedoukian EC et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Cammarata-Scalisi F et al.
Dermatologic Therapy, 2020
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Godillot C et al.
Acta Dermato-venereologica, 2019
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S et al.
Human Molecular Genetics, 2017
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
Dalamón VK et al.
Bmc Medical Genetics, 2016
Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.
Markova TG et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2015
[Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage].
Kombaté K et al.
The Pan African Medical Journal, 2015
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.
Mazereeuw-Hautier J et al.
Acta Dermato-venereologica, 2014
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
de Zwart-Storm EA et al.
Experimental Dermatology, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
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 et al.
Clinical and Experimental Dermatology, 2011
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
Fozza C et al.
Case Reports in Hematology, 2011
Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
Zhang XB et al.
Clinical and Experimental Dermatology, 2009
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
Kelly B et al.
International Journal of Dermatology, 2008
[Keratitis-ichthyosis-deafness (KID) syndrome].
Mazereeuw-Hautier J
Annales De Dermatologie Et De Venereologie, 2008
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
Mazereeuw-Hautier J et al.
The British Journal of Dermatology, 2007
A case of keratitis-ichthyosis-deafness (KID) syndrome.
Watanabe D et al.
International Journal of Dermatology, 2007
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
Tóth T et al.
Human Mutation, 2004
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Richard G et al.
American Journal of Human Genetics, 2002
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
Jonard L et al.
European Journal of Medical Genetics, 0
Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome.
De Raeve L et al.
Pediatric Dermatology, 0
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T et al.
Pediatric Dermatology, 0
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 et al.
Pediatric Dermatology, 0