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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Nozaki+H%22">Nozaki H</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Kobe University School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Sakakibara+N%22">Sakakibara N</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: nsakaki@med.kobe-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Hanafusa+H%22">Hanafusa H</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Inoki+Y%22">Inoki Y</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Tanaka+Y%22">Tanaka Y</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Kitakado+H%22">Kitakado H</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Ueda+C%22">Ueda C</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Nagano+C%22">Nagano C</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Horinouchi+T%22">Horinouchi T</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Yamamura+T%22">Yamamura T</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Ishimori+S%22">Ishimori S</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Yamaguchi+H%22">Yamaguchi H</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Nozu+K%22">Nozu K</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Morisada+N%22">Morisada N</searchLink>; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
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  Data: <searchLink fieldCode="JN" term="%227909235%22">Brain & development</searchLink> [Brain Dev] 2025 Aug; Vol. 47 (4), pp. 104366. <i>Date of Electronic Publication: </i>2025 May 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7909235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-7131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203877604%22">03877604 </searchLink><i>NLM ISO Abbreviation: </i>Brain Dev <i>Subsets: </i>MEDLINE
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              Text: 2025 Aug
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