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Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis.
Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F; Scheffer, Ingrid E; Liao, Jianxiang; Hildebrand, Michael S.
Afiliação
  • Ye Z; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia.
  • Lin S; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Zhao X; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Wallis M; Tasmania Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia; School of Medicine, University of Tasmania, Hobart, Tasmania, Australia; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia; Austin Health, Heidelberg, Victoria, Australia
  • Gao X; AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China.
  • Sun L; AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China.
  • Wu J; AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China.
  • Duan J; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Yao Y; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Li L; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Chen L; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Cao D; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Hu Z; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.
  • Zhang VW; AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China.
  • Berkovic SF; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia; Austin Health, Heidelberg, Victoria, Australia.
  • Scheffer IE; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia; Austin Health, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; Department of Paediatrics, The University
  • Liao J; Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China. Electronic address: liaojianxiang@vip.sina.com.
  • Hildebrand MS; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia; Austin Health, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address: michael.hildebrand@uni
Pediatr Neurol ; 150: 37-39, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37951160
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Proteínas Supressoras de Tumor / Proteína 1 do Complexo Esclerose Tuberosa / Proteína 2 do Complexo Esclerose Tuberosa Limite: Humans Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Proteínas Supressoras de Tumor / Proteína 1 do Complexo Esclerose Tuberosa / Proteína 2 do Complexo Esclerose Tuberosa Limite: Humans Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália