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New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
Cheng, Wan-Yu; Ma, Mei-Jiao; Yuan, Shi-Qin; Qi, Xiao-Long; Rong, Wei-Ning; Sheng, Xun-Lun.
Afiliação
  • Cheng WY; Third Clinical Medical College of Ningxia Medical University, Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China.
  • Ma MJ; Gansu Aier Ophthalmology and Optometry Hospital, 1228-437, Guazhou Road, Qilihe District, Lanzhou City, 730050, Gansu, China.
  • Yuan SQ; Third Clinical Medical College of Ningxia Medical University, Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China.
  • Qi XL; Third Clinical Medical College of Ningxia Medical University, Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China.
  • Rong WN; Third Clinical Medical College of Ningxia Medical University, Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, No 936, Huanghe East Road, Jinfeng District, Yinchuan, 750001, Ningxia, China. rongweining426@126.com.
  • Sheng XL; Gansu Aier Ophthalmology and Optometry Hospital, 1228-437, Guazhou Road, Qilihe District, Lanzhou City, 730050, Gansu, China. shengxunlun@163.com.
BMC Ophthalmol ; 22(1): 386, 2022 Sep 26.
Article em En | MEDLINE | ID: mdl-36162988
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Baixa Visão / Síndrome de Alstrom / Hiperopia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Baixa Visão / Síndrome de Alstrom / Hiperopia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article