Connexin 26 mutation in keratitis–ichthyosis–deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2008.03603.x/fullpdf
Reference16 articles.
1. 1 Online Mendelian Inheritance of Man, and OMIM ). URL http://www.ncbi.nlm.nih.gov/Omim [accessed on 1 February 2008].
2. Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
3. Keratitis, Ichthyosis, and Deafness (KID Syndrome): Review of the Literature and Proposal of a New Terminology
4. Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome
5. KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation
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1. Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations;Pediatric Dermatology;2022-11-29
2. KID Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
3. Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro;Physiological Reports;2016-11
4. From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome;J INVEST DERMATOL;2016
5. Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes;International Journal of Pediatric Otorhinolaryngology;2016-02
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