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Article Abstract
We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous variant (c.C1361 T, p.P454L). Genetic and histopathological analysis revealed increased RAS/mitogen-activated protein kinase pathway activation in affected skin, suggesting a distinct molecular mechanism linking mosaicism to LEN. Our findings expand the genetic spectrum of LEN and provide insights into the role of in cutaneous mosaic disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12360036 | PMC |
| http://dx.doi.org/10.1093/bjd/ljaf210 | DOI Listing |
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