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De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.
Tang, Xiaojun; Lan, Xiaoping; Song, Xiaozhen; Xu, Wuhen; Zhang, Yuanfeng; Zhang, Hong; Wu, Shengnan.
Affiliation
  • Tang X; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Lan X; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Song X; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Xu W; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Zhang Y; Department of Neurology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Zhang H; Department of Clinical Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Wu S; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
Mol Genet Genomic Med ; 8(11): e1499, 2020 11.
Article in En | MEDLINE | ID: mdl-33037762
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Developmental Disabilities / Neurodegenerative Diseases / Epilepsy / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Developmental Disabilities / Neurodegenerative Diseases / Epilepsy / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States