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Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan, Wen-Cong; Wang, Jia; Yu, Yong-Lin; Che, Yue-Ping; Ding, Li; Li, Chen-Xi; Wang, Xiao-Dong; Li, Hai-Feng.
Affiliation
  • Ruan WC; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.
  • Wang J; Cipher Gene, LLC, Beijing, 100080, China.
  • Yu YL; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.
  • Che YP; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.
  • Ding L; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.
  • Li CX; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China.
  • Wang XD; Cipher Gene, LLC, Beijing, 100080, China. xdwang@ciphergene.com.
  • Li HF; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, Zhejiang, 310052, China. 6199005@zju.edu.cn.
BMC Med Genet ; 21(1): 51, 2020 03 14.
Article in En | MEDLINE | ID: mdl-32171285
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Quadriplegia / RNA-Binding Proteins / Seizures, Febrile / Adaptor Protein Complex 4 / Adaptor Protein Complex beta Subunits / DNA-Binding Proteins Type of study: Prognostic_studies Aspects: Patient_preference Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Year: 2020 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Quadriplegia / RNA-Binding Proteins / Seizures, Febrile / Adaptor Protein Complex 4 / Adaptor Protein Complex beta Subunits / DNA-Binding Proteins Type of study: Prognostic_studies Aspects: Patient_preference Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Year: 2020 Document type: Article