{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:01:04Z","timestamp":1790352064243,"version":"4.1.0"},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:00:00Z","timestamp":1782518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:p>We report a patient with a congenital unilateral epidermal naevus caused by two novel pathogenic ABCA12 variants, one inherited and one postzygotically acquired. This represents a rare example of recessive mosaicism, previously described only once. Our case corroborates and extends current knowledge of this mechanism and highlights its relevance for diagnostics and genetic counselling.<\/jats:p>","DOI":"10.1093\/ced\/llag273","type":"journal-article","created":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T09:21:23Z","timestamp":1782552083000},"page":"1975-1978","source":"Crossref","is-referenced-by-count":0,"title":["A second case of recessive mosaicism in\n                    <i>ABCA12<\/i>\n                    causing a congenital unilateral epidermal naevus"],"prefix":"10.1093","volume":"51","author":[{"given":"Madeleine","family":"M\u00fcller","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg , Freiburg ,","place":["Germany"]},{"name":"Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg , Freiburg ,","place":["Germany"]},{"name":"European Reference 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