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Ophthalmic Genetics Volume 34, 2013 - Issue 3
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Case Report

A New Case of Keratoconus Associated with Williams-Beuren Syndrome

Melissa Machado VianaServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas GeraisBrazilCorrespondence[email protected]
,
Maria FrassonServiço de Retina, Hospital São Geraldo, Universidade Federal de Minas GeraisBrazil
,
Letícia Lima LeãoServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas GeraisBrazil
,
Martin StofankoNúcleo de Genética Médica (GENE), Minas GeraisBrazil
,
Higgor Gonçalves-DornelasNúcleo de Genética Médica (GENE), Minas GeraisBrazil
,
Pricila da Silva CunhaDepartamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas GeraisBrazil
&
Marcos José Burle de AguiarServiço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas GeraisBrazil
 show all
Pages 174-177 | Received 07 Jun 2012, Accepted 06 Oct 2012, Published online: 20 Nov 2012

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Avinash M. Veerappa. (2021) Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis. Ophthalmic Genetics 42:2, pages 114-131.
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Liyan Xu, Kaili Yang, Qi Fan, Yuwei Gu, Bo Zhang, Chenjiu Pang & Shengwei Ren. (2020) Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus. Ophthalmic Genetics 41:6, pages 518-525.
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Melissa Machado Viana, Maria Frasson, Henrique Galvão, Letícia Lima Leão, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha & Marcos José Burle de Aguiar. (2015) Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome. Ophthalmic Genetics 36:3, pages 234-238.
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Articles from other publishers (4)

Marco Nassisi, Claudia Mainetti, Andrea Aretti, Andrea Sperti, Valeria Nicotra, Berardo Rinaldi, Federica Natacci, Maria Francesca Bedeschi & Francesco Viola. (2023) Ocular features in Williams-Beuren syndrome: a review of the literature. Current Opinion in Ophthalmology.
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Dimitrios Karamichos, Paulina Escandon, Brenda Vasini, Sarah E. Nicholas, Lyly Van, Deanna H. Dang, Rebecca L. Cunningham & Kamran M. Riaz. (2022) Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets. Progress in Retinal and Eye Research 88, pages 101016.
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Mariam Lotfy Khaled & Yutao Liu. 2020. Genetics and Genomics of Eye Disease. Genetics and Genomics of Eye Disease 219 235 .
Khaled K. Abu-Amero, Abdulrahman M. Al-Muammar & Altaf A. Kondkar. (2014) Genetics of Keratoconus: Where Do We Stand?. Journal of Ophthalmology 2014, pages 1-11.
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