A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
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| Title: | A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing. |
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| Authors: | Kim HH; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, gushkrs@gmail.com., Kim AR; Medical Research Institute, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea.; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea., Kim NKD; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea., Ahn SY; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Sung SI; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Park WS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Lee C; GENINUS Inc., Seoul, Republic of Korea., Chang YS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Park WY; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.; Department of Health Sciences and Technology, Samsung Advanced Institute of Health Science and Technology, Sungkyunkwan University, Seoul, Republic of Korea.; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea. |
| Source: | Neonatology [Neonatology] 2020; Vol. 117 (3), pp. 374-379. Date of Electronic Publication: 2020 Mar 03. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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