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Ophthalmic Genetics Volume 28, 2007 - Issue 4
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Case Report

Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene

Hiroyuki Kondo Department of Ophthalmology, Fukuoka University School of Medicine, 7-45-1, Nanakuma, Jonanku, Fukuoka, Japan
,
Minghui Qin Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
,
Tomoko Tahira Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
,
Eiichi Uchio Department of Ophthalmology, Fukuoka University School of Medicine, 7-45-1, Nanakuma, Jonanku, Fukuoka, Japan
&
Kenshi Hayashi Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
Pages 220-223 | Received 20 Jul 2007, Accepted 03 Sep 2007, Published online: 08 Jul 2009

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Arif O. Khan, Steffen Lenzner & Hanno J. Bolz. (2017) A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. Ophthalmic Genetics 38:4, pages 380-382.
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Johane M. Robitaille, Karin Wallace, Binyou Zheng, M. Jill Beis, Mark Samuels, Ann Hoskin-Mott & Duane L. Guernsey. (2009) Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees. Ophthalmic Genetics 30:1, pages 23-30.
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Suma Tiruvayipati, Dharjath S. Hameed & Niyaz Ahmed. (2022) Play the plug: How bacteria modify recognition by host receptors?. Frontiers in Microbiology 13.
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Reham M. Milhem & Bassam R. Ali. (2019) Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. Molecular Medicine 26:1.
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Patrick C. Staropoli, Nicolas A. Yannuzzi, Nimesh A. Patel, Catherin I. Negron, Supalert Prakhunhungsit & Audina M. Berrocal. (2020) Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. Journal of Pediatric Ophthalmology & Strabismus 57:6.
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Mina ZamaniGholamreza ShariatiTahereh SeifiAlireza SedaghatHamid Galehdari. (2020) Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy. Intractable & Rare Diseases Research 9:1, pages 48-53.
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Hongtao Xiao, Yuna Tong, Yuxuan Zhu & Min Peng. (2019) Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/ β -Catenin Signal Pathway: Structure, Function, and Mutation Spectrums . Journal of Ophthalmology 2019, pages 1-24.
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Andi Abeshi, Vincenza Precone, Tommaso Beccari, Munis Dundar, Benedetto Falsini & Matteo Bertelli. (2017) Genetic testing in translational ophthalmology. The EuroBiotech Journal 1:s1, pages 1-5.
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C. Montecinos-Contreras, H.E. Sepúlveda-Vázquez, E. Pelcastre-Luna, J.C. Zenteno & C. Villanueva-Mendoza. (2017) Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. Archivos de la Sociedad Española de Oftalmología (English Edition) 92:4, pages 189-192.
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C. Montecinos-Contreras, H.E. Sepúlveda-Vázquez, E. Pelcastre-Luna, J.C. Zenteno & C. Villanueva-Mendoza. (2017) Vitreorretinopatía exudativa familiar, reporte de un caso asintomático con herencia autosómica dominante, detectado mediante análisis molecular de FZD4. Archivos de la Sociedad Española de Oftalmología 92:4, pages 189-192.
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Ganeswara Rao Musada, Hameed Syed, Subhadra Jalali, Subhabrata Chakrabarti & Inderjeet Kaur. (2016) Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. BMC Ophthalmology 16:1.
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Hiroyuki Kondo. (2015) Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments. Taiwan Journal of Ophthalmology 5:2, pages 56-62.
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Myron Yanoff & Joseph W. Sassani. 2015. Ocular Pathology. Ocular Pathology 649 674.e7 .
Yulian Zhou, Yanshu Wang, Max Tischfield, John Williams, Philip M. Smallwood, Amir Rattner, Makoto M. Taketo & Jeremy Nathans. (2014) Canonical WNT signaling components in vascular development and barrier formation. Journal of Clinical Investigation 124:9, pages 3825-3846.
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Hiroyuki Kondo, Shunji Kusaka, Aki Yoshinaga, Eiichi Uchio, Akihiko Tawara, Kenshi Hayashi & Tomoko Tahira. (2011) Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy. American Journal of Ophthalmology 151:6, pages 1095-1100.e1.
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Xin Ye, Yanshu Wang & Jeremy Nathans. (2010) The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. Trends in Molecular Medicine 16:9, pages 417-425.
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Kenneth J. Valenzano, Elfrida R. Benjamin, Patricia René & Michel Bouvier. 2010. GPCR Molecular Pharmacology and Drug Targeting. GPCR Molecular Pharmacology and Drug Targeting 460 510 .
Arlene V. Drack, Scott R. Lambert & Edwin M. Stone. (2010) From the Laboratory to the Clinic: Molecular Genetic Testing in Pediatric Ophthalmology. American Journal of Ophthalmology 149:1, pages 10-17.e2.
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Xin Ye, Yanshu Wang, Hugh Cahill, Minzhong Yu, Tudor C. Badea, Philip M. Smallwood, Neal S. Peachey & Jeremy Nathans. (2009) Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization. Cell 139:2, pages 285-298.
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