Your browser doesn't support javascript.
loading
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Aihara, Yu; Shirota, Matsuyuki; Kikuchi, Atsuo; Katata, Yu; Abe, Yu; Niihori, Tetsuya; Funayama, Ryo; Nakayama, Keiko; Aoki, Yoko; Kure, Shigeo.
Afiliação
  • Aihara Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Shirota M; Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. atsuo.kikuchi.d4@tohoku.ac.jp.
  • Katata Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Abe Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
J Hum Genet ; 68(1): 51-54, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36167772
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distonia / Deficiência Intelectual Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distonia / Deficiência Intelectual Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article