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- W2920786472 abstract "Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, hearing loss, and vascularizing keratitis.1 Genetically, it is heterogeneous and may be caused by mutations in the connexin gene GJB2 and/or GJB6 encoding connexin proteins (Cx) 26 and 30, respectively.2 Most of these cases are sporadic,3 but those that appear in families are result of GJB2 mutations in an autosomal dominant pattern.3,4" @default.
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- W2920786472 date "2019-03-01" @default.
- W2920786472 modified "2023-10-09" @default.
- W2920786472 title "A novel homozygous mutation of GJB2—A new variant of keratitis-ichthyosis-deafness syndrome?" @default.
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- W2920786472 doi "https://doi.org/10.1016/j.jdcr.2019.01.014" @default.
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