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A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.
Li, Yinwen; Chen, Jieqiong; Zheng, Ying; Chen, Zhixuan; Wang, Tao; Sun, Qian; Wan, Xiaoling; Liu, Haiyun; Sun, Xiaodong.
Afiliação
  • Li Y; Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
  • Chen J; National Clinical Research Center for Eye Diseases, Shanghai, China.
  • Zheng Y; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
  • Chen Z; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.
  • Wang T; Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
  • Sun Q; National Clinical Research Center for Eye Diseases, Shanghai, China.
  • Wan X; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
  • Liu H; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.
  • Sun X; Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
BMC Ophthalmol ; 23(1): 393, 2023 Sep 26.
Article em En | MEDLINE | ID: mdl-37752489
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aniridia / Fator de Transcrição PAX6 / População do Leste Asiático Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aniridia / Fator de Transcrição PAX6 / População do Leste Asiático Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article