Article
Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.
American journal of medical genetics. Part A - 1 Jan 2023
López-Sundh Ana Elísabet, Escribano-Palomino Esperanza, Feito-Rodríguez Marta, Tenorio Jair, Brizzi María Emilia, Krasnovska Zayets Khrystyna, Servera-Negra Guillermo, de Lucas-Laguna Raúl
Abstract excerpt
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disease caused by pathogenic variants in connexin 26 (gene GJB2), which is part of the transmembrane channels of the epithelia. Connexin 26 is expressed mainly in the cornea, the sensory epithelium of the inner ear, and in the skin keratinocytes, which are the three main target organs in KID syndrome. Approximately a dozen pathogenic variants have...
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