Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up.
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| Title: | Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up. |
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| Authors: | Hashizume R; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.; Department of Pathology and Matrix Biology, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Imai H; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan.; Pathology Division, Mie University Hospital, Tsu, Mie, Japan., Ohashi H; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Sawada H; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Yodoya N; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Okamoto R; Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Dohi K; Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Kasai C; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Kitajima T; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Fujiwara T; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Mochiki I; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Nakatani K; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Wakita S; Department of Pathology and Matrix Biology, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Ohno S; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan., Kato K; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan., Okugawa Y; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie, Japan., Mitani Y; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan., Hirayama M; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Mie, Japan. |
| Source: | Frontiers in genetics [Front Genet] 2025 Mar 06; Vol. 16, pp. 1545561. Date of Electronic Publication: 2025 Mar 06 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2025.1545561 |
