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This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.