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Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Zhao, Jianbo; Lyu, Guizhen; Ding, Changhong; Wang, Xiaohui; Li, Jiuwei; Zhang, Weihua; Yang, Xinying; Zhang, Victor Wei.
Afiliación
  • Zhao J; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Lyu G; AmCare Genomics Laboratory, Guangzhou, China.
  • Ding C; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Wang X; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Li J; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Zhang W; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Yang X; Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
  • Zhang VW; AmCare Genomics Laboratory, Guangzhou, China.
Mol Genet Genomic Med ; 10(3): e1825, 2022 03.
Article en En | MEDLINE | ID: mdl-35156329

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Observational_studies Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Observational_studies Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China