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De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Nakashima, Mitsuko; Argilli, Emanuela; Nakano, Sayaka; Sherr, Elliott H; Kato, Mitsuhiro; Saitsu, Hirotomo.
Afiliação
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Argilli E; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
  • Nakano S; Department of Pediatrics, Itami City Hospital, Itami, Japan.
  • Sherr EH; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan. ktmthr@gmail.com.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. hsaitsu@hama-med.ac.jp.
J Hum Genet ; 68(4): 291-298, 2023 Apr.
Article em En | MEDLINE | ID: mdl-36536096
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Malformações do Sistema Nervoso Limite: Animals Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Malformações do Sistema Nervoso Limite: Animals Idioma: En Ano de publicação: 2023 Tipo de documento: Article