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Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome.
Jia, Yangying; Chen, Jianhai; Zhong, Jie; He, Xuefei; Zeng, Li; Wang, Yanmin; Li, Jiakun; Xia, Shengqian; Ye, Erdengqieqieke; Zhao, Jing; Ke, Bin; Li, Chunyu.
Afiliação
  • Jia Y; Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
  • Chen J; Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
  • Zhong J; Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
  • He X; Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
  • Zeng L; The Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, China.
  • Wang Y; Chinese Institute for Brain Research, Beijing, China.
  • Li J; Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
  • Xia S; Department of Urology, Institute of Urology, West China Hospital of Sichuan University, Chengdu, China.
  • Ye E; Department of Ecology and Evolution, The University of Chicago, Chicago, Illinois, USA.
  • Zhao J; Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
  • Ke B; Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
  • Li C; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Clin Genet ; 103(1): 79-86, 2023 01.
Article em En | MEDLINE | ID: mdl-36148623

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do Coração Esquerdo Hipoplásico Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do Coração Esquerdo Hipoplásico Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article