Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

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.

Bibliographic Details

Published in:	Balkan Journal of Medical Genetics
Main Authors:	Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D
Format:	Article
Language:	English
Published:	Sciendo 2023-03-01
Subjects:	gjb2 gene keratitis-ichthyosis-deafness syndrome kid p.d50n steroid therapy
Online Access:	https://doi.org/10.2478/bjmg-2022-0014