Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report.

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Title: Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report.
Authors: Liang L; School of Medicine, Nankai University, Tianjin, CHN.; Department of Dermatology, The First Medical Center, People's Liberation Army (PLA) General Hospital, Beijing, CHN., Li R; Department of Dermatology, The First Medical Center, People's Liberation Army (PLA) General Hospital, Beijing, CHN., Ren D; Department of Dermatology, Chinese People's Liberation Army (PLA) Medical School, Beijing, CHN., Zhou Y; Department of Dermatology, The First Medical Center, People's Liberation Army (PLA) General Hospital, Beijing, CHN.
Source: Cureus [Cureus] 2026 Jan 16; Vol. 18 (1), pp. e101655. Date of Electronic Publication: 2026 Jan 16 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2168-8184
DOI:10.7759/cureus.101655