Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.
Saved in:
| Title: | Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity. |
|---|---|
| Authors: | Cho HW; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Kim H; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea., Kim JM; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Shin DM; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Kim OH; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Yang M; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea., Jo HS; Department of Pediatrics, Kangwon National University School Hospital, Kangwon National Univertisy School of Medicine, Chuncheon, 24289, Korea., Jang MA; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea., Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea., Park HY; National Institute of Health, Cheongju, 28159, Korea., Chang YS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, 06351, Korea. yunsil.chang@gmail.com., Park MH; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea. mihyun4868@korea.kr. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 09; Vol. 20 (1), pp. 349. Date of Electronic Publication: 2025 Jul 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1750-1172 |
|---|---|
| DOI: | 10.1186/s13023-025-03871-5 |
