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Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu, Xuyun; Guo, Ruolan; Hao, Chanjuan; Hao, Lijuan.
Afiliación
  • Hu X; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, PR China.
  • Guo R; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, PR China.
  • Hao C; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, PR China.
  • Hao L; Department of Obstetrics and Gynecology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, PR China. Electronic address: haolj2002@163.com.
Gene ; 894: 147985, 2024 Feb 05.
Article en En | MEDLINE | ID: mdl-37956963
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Gene Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Gene Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos