{"doi":"10.1111/pde.15184","title":"<scp>SCALP</scp> syndrome with a germline heterozygous <i>DOCK6</i> mutation and somatic mosaic <i>NRAS</i><scp>Q61R</scp> mutation","abstract":"We present a case of SCALP syndrome, which was diagnosed in a male infant with the characteristic findings of sebaceous nevi, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and giant congenital melanocytic nevi, or pigmented nevi. We identified a germline compound heterozygous DOCK6 mutation and a somatic mosaic NRAS Q61R mutation in the giant congenital melanocytic nevus. This report will increase clinician awareness of SCALP syndrome and augment the literature in characterizing this rare syndrome, including its genetic background.","journal":"Pediatric Dermatology","year":2022,"id":296132,"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":0.9549,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":982854,"name":"Elanee Simmons","orcid":null,"position":1,"is_corresponding":false},{"id":13799,"name":"John D. McPherson","orcid":"0000-0001-8049-9347","position":2,"is_corresponding":false},{"id":632745,"name":"Smita Awasthi","orcid":"0000-0003-0683-5001","position":3,"is_corresponding":false},{"id":147017,"name":"Maija Kiuru","orcid":"0000-0002-7010-5516","position":4,"is_corresponding":false},{"id":982324,"name":"Summer N. Meyer","orcid":"0000-0001-6157-5746","position":0,"is_corresponding":true}],"reference_count":21,"raw_metadata":null,"created_at":"2026-07-19T00:31:12.531553Z","pmid":"36456540","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":[]}