The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.
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| Title: | The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing. |
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| Authors: | Nozaki H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Kobe University School of Medicine, Kobe, Japan., Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: nsakaki@med.kobe-u.ac.jp., Hanafusa H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Inoki Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Tanaka Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Kitakado H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Ueda C; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Nagano C; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Ishimori S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Yamaguchi H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan. |
| Source: | Brain & development [Brain Dev] 2025 Aug; Vol. 47 (4), pp. 104366. Date of Electronic Publication: 2025 May 09. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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