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Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Cai, Xue-Bi; Wu, Kun-Chao; Zhang, Xiao; Lv, Ji-Neng; Jin, Guang-Hui; Xiang, Lue; Chen, Jie; Huang, Xiu-Feng; Pan, Deng; Lu, Bin; Lu, Fan; Qu, Jia; Jin, Zi-Bing.
Afiliação
  • Cai XB; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Wu KC; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Zhang X; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Lv JN; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Jin GH; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Xiang L; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Chen J; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Huang XF; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Pan D; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Lu B; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Lu F; Lab for Stem Cell and Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Qu J; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
  • Jin ZB; State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
Clin Genet ; 96(1): 61-71, 2019 07.
Article em En | MEDLINE | ID: mdl-30945270
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Degeneração Retiniana / Doenças da Coroide / Oftalmopatias Hereditárias / Proteínas de Ligação ao GTP / Predisposição Genética para Doença / Estudo de Associação Genômica Ampla / Sequenciamento do Exoma Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Degeneração Retiniana / Doenças da Coroide / Oftalmopatias Hereditárias / Proteínas de Ligação ao GTP / Predisposição Genética para Doença / Estudo de Associação Genômica Ampla / Sequenciamento do Exoma Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article