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Ophthalmic Genetics Volume 31, 2010 - Issue 4
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Original Article

Keratoconus associated with Williams–Beuren syndrome: First case reports

Loic PinsardOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux UniversityCorrespondence[email protected]
,
David TouboulOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux University
,
Yen VuGenetic Department, Pellegrin Hospital, Bordeaux University
,
Didier LacombeGenetic Department, Pellegrin Hospital, Bordeaux University
,
Francois LegerAnatomic Pathology Department, Pellegrin Hospital, Bordeaux University, France
&
Joseph ColinOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux University
Pages 252-256 | Received 23 Mar 2010, Accepted 04 Sep 2010, Published online: 11 Nov 2010

Citations (12)

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Read on this site (3)

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, Letícia Lima Leão, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha & Marcos José Burle de Aguiar. (2013) A New Case of Keratoconus Associated with Williams-Beuren Syndrome. Ophthalmic Genetics 34:3, pages 174-177.
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Kathryn P Burdon & Andrea L Vincent. (2013) Insights into keratoconus from a genetic perspective. Clinical and Experimental Optometry 96:2, pages 146-154.
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Articles from other publishers (9)

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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Rabab Sharif, Sashia Bak-Nielsen, Jesper Hjortdal & Dimitrios Karamichos. (2018) Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein. Progress in Retinal and Eye Research 67, pages 150-167.
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Jack S. Parker, Korine van Dijk & Gerrit R.J. Melles. (2015) Treatment options for advanced keratoconus: A review. Survey of Ophthalmology 60:5, pages 459-480.
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Margarita G Todorova, Matthias C Grieshaber, Rafael JA Cámara, Peter Miny & Anja M Palmowski-Wolfe. (2014) Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature. BMC Ophthalmology 14:1.
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Victor Nannini. (2014) Metabolic and Autoimmune Syndromes. Atlas of the Oral and Maxillofacial Surgery Clinics 22:2, pages 123-134.
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Lubica Dudakova & Katerina Jirsova. (2013) The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders. Journal of Neural Transmission 120:6, pages 977-982.
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Karen W. Gripp & Laurie A. Demmer. (2013) Keratoconus in Costello Syndrome. American Journal of Medical Genetics Part A 161:5, pages 1132-1136.
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S. Léoni-Mesplié, B. Mortemousque, N. Mesplié, D. Touboul, D. Praud, F. Malet & J. Colin. (2012) Aspects épidémiologiques du kératocône chez l’enfant. Journal Français d'Ophtalmologie 35:10, pages 776-785.
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