{"doi":"10.1093/bjd/ljaf210","title":"Linear epidermal naevus associated with a novel mosaic heterozygous <i>PTPN11</i> variant","abstract":"We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous PTPN11 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 PTPN11 mosaicism to LEN. Our findings expand the genetic spectrum of LEN and provide insights into the role of PTPN11 in cutaneous mosaic disorders.","journal":"British Journal of Dermatology","year":2025,"id":544487,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9511,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":920969,"name":"Tiffany X. Chen","orcid":"0000-0001-5443-0610","position":1,"is_corresponding":false},{"id":510300,"name":"Rong‐Hua Hu","orcid":"0000-0002-5260-2519","position":2,"is_corresponding":false},{"id":583134,"name":"Ryland D. Mortlock","orcid":"0000-0001-9666-4394","position":3,"is_corresponding":false},{"id":731236,"name":"Christine J. Ko","orcid":"0000-0003-2270-2524","position":4,"is_corresponding":false},{"id":381677,"name":"Keith A. Choate","orcid":"0000-0003-1010-6354","position":5,"is_corresponding":false},{"id":1418136,"name":"Xingyuan Jiang","orcid":"0000-0002-9891-6353","position":0,"is_corresponding":true}],"reference_count":8,"raw_metadata":null,"created_at":"2026-07-19T02:53:12.864581Z","pmid":"40442926","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}