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Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Zhang, Xiujuan; Shen, Yue; Li, Ping; Cai, Ruikun; Lu, Chao; Li, Qian; Chen, Cuixia; Yu, Yufei; Cheng, Tingting; Wang, Xian; Luo, Minna; Cao, Muqing; Cao, Zongfu; Ma, Xu.
Afiliação
  • Zhang X; Department of Physiology and Pathophysiology, School of Basic Medicine Sciences, Key Laboratory of Molecular Cardiovascular Science, Ministry of Education, Peking University, Beijing, China.
  • Shen Y; Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Li P; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Cai R; Department of Developmental Pediatrics, The Second Hospital of Jilin University, Changchun, Jilin, China.
  • Lu C; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Li Q; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Chen C; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Yu Y; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Cheng T; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Wang X; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Luo M; Graduate School of Peking Union Medical College, Beijing, China.
  • Cao M; Department of Physiology and Pathophysiology, School of Basic Medicine Sciences, Key Laboratory of Molecular Cardiovascular Science, Ministry of Education, Peking University, Beijing, China.
  • Cao Z; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Ma X; Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Mol Genet Genomic Med ; 9(6): e1682, 2021 06.
Article em En | MEDLINE | ID: mdl-33822487
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos