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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.
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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  Data: Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.
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  Data: <searchLink fieldCode="AU" term="%22Hong+YJ%22">Hong YJ</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Yang+M%22">Yang M</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Kwon+HJ%22">Kwon HJ</searchLink>; Center for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Cha+J%22">Cha J</searchLink>; Center for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Jang+JH%22">Jang JH</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Wang+SE%22">Wang SE</searchLink>; Institute for Life Science and Biotechnology, Yonsei University, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+ES%22">Lee ES</searchLink>; Department of Pediatrics, College of Medicine, Chung-Ang University, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Jang+MA%22">Jang MA</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
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  Data: <searchLink fieldCode="JN" term="%228801384%22">Journal of clinical laboratory analysis</searchLink> [J Clin Lab Anal] 2026 Feb; Vol. 40 (3), pp. e70152. <i>Date of Electronic Publication: </i>2025 Dec 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8801384 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-2825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208878013%22">08878013 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Lab Anal <i>Subsets: </i>MEDLINE
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        Value: 10.1002/jcla.70152
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              Text: 2026 Feb
              Type: published
              Y: 2026
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