{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["42(6)"],"submitter":["Sanchez-Espino LF"],"pubmed_abstract":["We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood."],"journal":["Pediatric dermatology"],"pagination":["1297-1298"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12646972"],"repository":["biostudies-literature"],"pubmed_title":["Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene."],"pmcid":["PMC12646972"],"pubmed_authors":["Sanchez-Espino LF","Baselga E","Armstrong-Moron J","Ivars M","Vicente-Lopez A","Prat-Torres C"],"additional_accession":[]},"is_claimable":false,"name":"Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.","description":"We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov-Dec","modification":"2026-06-05T19:54:11.607Z","creation":"2026-05-21T03:11:39.543Z"},"accession":"S-EPMC12646972","cross_references":{"pubmed":["40476394"],"doi":["10.1111/pde.15959"]}}