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The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Che, Ruochen; Wang, Chunli; Huang, Songming; Zheng, Bixia; Li, Huixia; Cheng, Xueqin; Zhao, Fei; Ding, Guixia; Jia, Zhanjun; Zhang, Aihua.
Afiliação
  • Che R; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Wang C; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Huang S; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Zheng B; Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China.
  • Li H; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Cheng X; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Zhao F; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Ding G; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Jia Z; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Zhang A; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Clin Genet ; 103(2): 179-189, 2023 02.
Article em En | MEDLINE | ID: mdl-36284407

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Sindactilia Tipo de estudo: Diagnostic_studies Limite: Animals / Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Sindactilia Tipo de estudo: Diagnostic_studies Limite: Animals / Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China