Open AccessKeratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
Author(s) -
Chen-Mei Liu,
Pingjiao Chen,
Qi Wang,
Xinyao Zheng,
Hongyan Lü,
Hongyu Chen,
Kang Zeng,
Changxing Li
Publication year - 2022
Publication title -
international journal of dermatology and venereology
Language(s) - English
Resource type - Journals
eISSN - 2641-8746
pISSN - 2096-5540
DOI - 10.1097/jd9.0000000000000221
Subject(s) - missense mutation , dermatology , keratitis , medicine , sensorineural hearing loss , compound heterozygosity , ichthyosis , connexin , dyskeratosis , mutation , hearing loss , genetics , hyperkeratosis , biology , audiology , intracellular , gap junction , gene