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Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
Yagasaki, Hideaki; Sano, Fumikazu; Narusawa, Hiromune; Watanabe, Daisuke; Kaga, Yoshimi; Kobayashi, Koji; Asano, Yoshihiro; Nagata, Miho; Yonei, Ayumi; Inukai, Takeshi.
Affiliation
  • Yagasaki H; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Sano F; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Narusawa H; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Watanabe D; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Kaga Y; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Kobayashi K; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Asano Y; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Nagata M; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Yonei A; Department of Genetic Counseling, Osaka University Hospital, Osaka, Japan.
  • Inukai T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Am J Med Genet A ; 188(8): 2466-2471, 2022 08.
Article in En | MEDLINE | ID: mdl-35703918
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate-tRNA Ligase / Diabetes Mellitus / Epilepsy Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Japan
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate-tRNA Ligase / Diabetes Mellitus / Epilepsy Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Japan