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Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Yu, Yonglin; Yin, Hongwei; Ma, Changli; Jia, Xiaoyi; Chen, Wencong; Li, Haifeng; Wu, Ke.
Afiliação
  • Yu Y; Department of Rehabilitation, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  • Yin H; Department of Rehabilitation, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  • Ma C; Chigene (Beijing) Translational Medical Research Center Co Ltd, Beijing, China.
  • Jia X; Department of Rehabilitation, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  • Chen W; Department of Rehabilitation, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  • Li H; Department of Rehabilitation, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  • Wu K; Chigene (Beijing) Translational Medical Research Center Co Ltd, Beijing, China.
Front Pediatr ; 10: 1008251, 2022.
Article em En | MEDLINE | ID: mdl-36340727
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Pediatr Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Pediatr Ano de publicação: 2022 Tipo de documento: Article