Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients

PURPOSE: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26. CASE...

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Detalles Bibliográficos
Autores principales: Kalezić, T, Vuković, I, Stojković, M, Stanojlović, S, Karanović, J, Brajušković, G, Savić-Pavićević, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985354/
https://www.ncbi.nlm.nih.gov/pubmed/36880041
http://dx.doi.org/10.2478/bjmg-2022-0014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985354/
https://www.ncbi.nlm.nih.gov/pubmed/36880041
http://dx.doi.org/10.2478/bjmg-2022-0014

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