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X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
Yan, Naihong; Xiao, Lirong; Hou, Chen; Guo, Bo; Fan, Wei; Deng, Yingping; Ma, Ke.
Afiliação
  • Yan N; Research Laboratory of Ophthalmology and Vision Sciences, Torsten-Wiesel Research Institute of World Eye Organization, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Xiao L; Research Laboratory of Ophthalmology and Vision Sciences, Torsten-Wiesel Research Institute of World Eye Organization, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Hou C; Research Laboratory of Ophthalmology and Vision Sciences, Torsten-Wiesel Research Institute of World Eye Organization, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Guo B; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Fan W; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Deng Y; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Ma K; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, 610041, China.
BMC Med Genet ; 20(1): 41, 2019 03 19.
Article em En | MEDLINE | ID: mdl-30890130
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Análise de Sequência de DNA / Conexinas / Nistagmo Congênito / Proteínas do Citoesqueleto / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Análise de Sequência de DNA / Conexinas / Nistagmo Congênito / Proteínas do Citoesqueleto / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article