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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-35703918
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Diabetes Mellitus / Epilepsia Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Diabetes Mellitus / Epilepsia Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão