January 2016 in “SpringerBriefs in bioengineering” This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.
4 citations
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September 2004 in “Experimental Dermatology” This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.