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Ophthalmic Genetics Volume 41, 2020 - Issue 1
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Mutation Report

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

Giacomo Maria Baccia Pediatric Ophthalmology Unit, A. Meyer Children’s Hospital, Firenze, ItalyCorrespondence[email protected]
,
Sara Bargiacchib Genetics and Molecular Medicine Unit, Ospedale Pediatrico Meyer, Firenze, Italy
,
Pina Fortunatoa Pediatric Ophthalmology Unit, A. Meyer Children’s Hospital, Firenze, Italy
,
Elisa Pisaneschic Medical Genetics Laboratory, Bambino Gesu Pediatric Hospital, Roma, Italy
,
Francesca Pelusob Genetics and Molecular Medicine Unit, Ospedale Pediatrico Meyer, Firenze, Italy
,
Elisa Marzialia Pediatric Ophthalmology Unit, A. Meyer Children’s Hospital, Firenze, Italy
,
Adriano Maglid Department of Ophthalmology, Orthoptic and Pediatric Ophthalmology, Università degli Studi di Salerno Facoltà di Medicina e Chirurgia, Baronissi, Italy
,
Sabrina Rita Gigliob Genetics and Molecular Medicine Unit, Ospedale Pediatrico Meyer, Firenze, Italy
&
Roberto Caputoa Pediatric Ophthalmology Unit, A. Meyer Children’s Hospital, Firenze, Italy
 show all
Pages 49-56 | Received 25 Aug 2019, Accepted 09 Feb 2020, Published online: 02 Mar 2020

Citations (9)

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Junya Ota, Taiga Inooka, Satoshi Okado, Natsuki Maeda, Yoshito Koyanagi, Taro Kominami, Koji M. Nishiguchi & Shinji Ueno. (2023) Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients. Ophthalmic Genetics 44:5, pages 423-429.
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Articles from other publishers (8)

Shijin Wen, Xiaoshan Min, Ying Zhu & Xia Zhou. (2022) Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia. BMC Pediatrics 22:1.
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Takako Hanyu, Satoshi Ueki, Yukari Hasegawa, Megumi Kiyokawa & Takeo Fukuchi. (2022) Posterior microphthalmos with achievement of good visual acuity and disappearance of papillomacular retinal folds: a case report. BMC Ophthalmology 22:1.
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Giacomo Maria Bacci, Marco Ulises Morales, Elena Febbrini del Magro, Pins Fortunato, Elisa Marziali, Gianni Virgili, Winifried Amoaku & Roberto Caputo. (2022) Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients. Canadian Journal of Ophthalmology.
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Tsutomu Igarashi, Ikuroh Ohsawa, Maika Kobayashi, Kai Miyazaki, Toru Igarashi, Shuhei Kameya, Asaka Lee Shiozawa, Yasuhiro Ikeda, Yoshitaka Miyagawa, Mashito Sakai, Takashi Okada, Iwao Sakane & Hiroshi Takahashi. (2022) Drinking hydrogen water improves photoreceptor structure and function in retinal degeneration 6 mice. Scientific Reports 12:1.
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Xiang Ren, Yunxia Gao, Yu Lin, Xiangyu Fu, Lirong Xiao, Xiaoyue Wang, Zhibing Zeng, Li Bao, Naihong Yan, Ming Zhang & Li Tang. (2022) A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family. Frontiers in Medicine 9.
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Zachary J. Brandt, Ross F. Collery, Joseph C. Besharse & Brian A. Link. (2021) Ablation of mpeg + Macrophages Exacerbates mfrp -Related Hyperopia . Investigative Opthalmology & Visual Science 62:15, pages 13.
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Denis Plotnikov, Jiangtian Cui, Rosie Clark, Juho Wedenoja, Olavi Pärssinen, J. Willem L. Tideman, Jost B. Jonas, Yaxing Wang, Igor Rudan, Terri L. Young, David A. Mackey, Louise Terry, Cathy Williams & Jeremy A. Guggenheim. (2021) Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia. Investigative Opthalmology & Visual Science 62:13, pages 24.
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Elena Lang, Samuel Koller, David Atac, Oliver A. Pfäffli, James V.M. Hanson, Silke Feil, Luzy Bähr, Angela Bahr, Raimund Kottke, Pascal Joset, Katrin Fasler, Daniel Barthelmes, Katharina Steindl, Daniel Konrad, David‐Alexander Wille, Wolfgang Berger & Christina Gerth‐Kahlert. (2020) Genotype–phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica 99:4.
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