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Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Liu, Juan; Hu, Jihong; Duan, Yaqing; Qin, Rong; Guo, Chunguang; Zhou, Hongtao; Liu, Hua; Liu, Chunlei.
Afiliação
  • Liu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Hu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Duan Y; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Qin R; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Guo C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Zhou H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Liu H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
  • Liu C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Mol Genet Genomic Med ; 11(7): e2169, 2023 07.
Article em En | MEDLINE | ID: mdl-36934385

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Heterotopia Nodular Periventricular Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Heterotopia Nodular Periventricular Idioma: En Ano de publicação: 2023 Tipo de documento: Article