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Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
Yanagishita, Tomoe; Yamamoto-Shimojima, Keiko; Nakano, Sayaka; Sasaki, Testuya; Shigematsu, Hideo; Imai, Katsumi; Yamamoto, Toshiyuki.
Afiliação
  • Yanagishita T; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
  • Yamamoto-Shimojima K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan.
  • Nakano S; Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
  • Sasaki T; Department of Pediatrics, Iwate Prefectural Chubu Hospital, Kitakami, Japan.
  • Shigematsu H; Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
  • Imai K; Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
  • Yamamoto T; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.
Brain Dev ; 41(5): 452-455, 2019 May.
Article em En | MEDLINE | ID: mdl-30635136
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 1 / Proteínas / Deleção Cromossômica / Transtornos Cromossômicos / Transtornos Neurológicos da Marcha / Proteínas Ligases SKP Culina F-Box / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 1 / Proteínas / Deleção Cromossômica / Transtornos Cromossômicos / Transtornos Neurológicos da Marcha / Proteínas Ligases SKP Culina F-Box / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article