Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.
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| Title: | Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation. |
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| Authors: | Hong YJ; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Yang M; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Kwon HJ; Center for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea., Cha J; Center for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea., Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Wang SE; Institute for Life Science and Biotechnology, Yonsei University, Seoul, South Korea., Lee ES; Department of Pediatrics, College of Medicine, Chung-Ang University, Seoul, South Korea., Jang MA; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. |
| Source: | Journal of clinical laboratory analysis [J Clin Lab Anal] 2026 Feb; Vol. 40 (3), pp. e70152. Date of Electronic Publication: 2025 Dec 21. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-2825 |
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| DOI: | 10.1002/jcla.70152 |
