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Ophthalmic Genetics Volume 36, 2015 - Issue 2
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Case Report

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son

Karthikeyan Arcot SadagopanPediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA and
,
Robert BattistaThomas Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA
,
Rosanne B. KeepPediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA and
,
Jenina E. CapassoPediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA and
&
Alex V. LevinPediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA and ;Thomas Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USACorrespondence[email protected]
Pages 156-159 | Received 29 May 2012, Accepted 20 Aug 2013, Published online: 04 Oct 2013

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R. Lejoyeux, A-S Alonso, J. Lafolie, V. Michaud, E. Lasseaux, V. Vasseur, S. Derrien, M. P. Robert, Y. Le Mer, R. Tadayoni, B. Arveiler & M. Mauget-Faÿsse. (2022) Foveal hypoplasia in parents of patients with albinism. Ophthalmic Genetics 43:6, pages 817-823.
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Articles from other publishers (10)

Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson & Mariya Moosajee. (2023) Foveal Hypoplasia in CRB1-Related Retinopathies. International Journal of Molecular Sciences 24:18, pages 13932.
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Amani Albakri, Phattrawan Pisuchpen, Jenina E. Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P.‐W. Chiang, Anamaria Akapito Yomai, Donna McNear & Alex V. Levin. (2023) Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis . American Journal of Medical Genetics Part A 191:4, pages 1007-1012.
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Mohamed A. Faynus & Dennis O. Clegg. 2022. Current Progress in iPSC Disease Modeling. Current Progress in iPSC Disease Modeling 157 184 .
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy & Periasamy Sundaresan. (2021) Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. Eye and Vision 8:1.
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Alex Silva da Cruz, Danilo Conrado Silva, Lysa Bernardes Minasi, Larissa Kamídia de Farias Teixeira, Flávia Melo Rodrigues, Claudio Carlos da Silva, Adriana Santana do Carmo, Marcos Vinicius Gualberto Barbosa da Silva, Yuri Tani Utsunomiya, José Fernando Garcia & Aparecido Divino da Cruz. (2021) Single-Nucleotide Polymorphism Variations Associated With Specific Genes Putatively Identified Enhanced Genetic Predisposition for 305-Day Milk Yield in the Girolando Crossbreed. Frontiers in Genetics 11.
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Moustafa Magliyah, Amjad Ameen Saifaldein & Patrik Schatz. (2020) Late presentation of RPE65 retinopathy in three siblings. Documenta Ophthalmologica 140:3, pages 289-297.
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Yihui Wu, Jin Qiu, Shuilian Chen, Xi Chen, Jing Zhang, Jiejie Zhuang, Sian Liu, Meng Yang, Pan Zhou, Haoting Chen, Jian Ge, Keming Yu & Jing Zhuang. (2020) Crx Is Posttranscriptionally Regulated by Light Stimulation in Postnatal Rat Retina. Frontiers in Cell and Developmental Biology 8.
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Zhen Yi, Xueshan Xiao, Shiqiang Li, Wenmin Sun & Qingjiong Zhang. (2019) Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. Experimental Eye Research 189, pages 107846.
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Zhen Qu, Tinsae Assefa Yimer, Shanglun Xie, Fulton Wong, Shanshan Yu, Xiliang Liu, Shanshan Han, Juanjuan Ma, Zhaojing Lu, Xuebin Hu, Yayun Qin, Yuwen Huang, Yuexia Lv, Jingzhen Li, Zhaohui Tang, Fei Liu & Mugen Liu. (2019) Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1865:10, pages 2694-2705.
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Brijesh Takkar, Pooja Bansal & Pradeep Venkatesh. (2017) Leber’s Congenital Amaurosis and Gene Therapy. The Indian Journal of Pediatrics 85:3, pages 237-242.
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