Citations (16)
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Andrew Walkden, Emma Burkitt-Wright & Leon Au. (2019) Brittle cornea syndrome: current perspectives. Clinical Ophthalmology 13, pages 1511-1516.
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Articles from other publishers (15)
Bonnie A. Sklar, Phattrawan PisuchpenMor BareketTatyana MilmanRalph C. EagleJade MinorRebecca ProcopioJenina Capasso, Alex V. Levin & Kristin Hammersmith. (2023) Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Cornea 42:12, pages 1572-1577.
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Rocío Arce-González, Oscar Francisco Chacon-Camacho, Vianey Ordoñez-Labastida, Enrique O. Graue-Hernandez, Alejandro Navas-Pérez & Juan Carlos Zenteno. (2022) A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers. International Ophthalmology 43:3, pages 807-815.
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Chloe M. Stanton, Amy S. Findlay, Camilla Drake, Mohammad Z. Mustafa, Philippe Gautier, Lisa McKie, Ian J. Jackson & Veronique Vitart. (2021)
A mouse model of brittle cornea syndrome caused by mutation in
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. Disease Models & Mechanisms 14:9.
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Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura M. Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek‐Kiper, Gülen E. Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens & Fransiska Malfait. (2021) More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human Mutation 42:6, pages 711-730.
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Z. Safae, F. Chraibi, C. El Amine Filali, C. Khodriss, A. Bouanane, N. Lachkham, I. El Jazouli, M. Abdellaoui & I. Benatiya Andaloussi. (2021) Corneal rupture management with amniotic membrane graft in a patient with Brittle cornea syndrome. Journal Français d'Ophtalmologie 44:3, pages e173-e176.
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Cortney Gensemer, Randall Burks, Steven Kautz, Daniel P. Judge, Mark Lavallee & Russell A. Norris. (2020)
Hypermobile
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Pavlina Skalicka, Louise F. Porter, Kristyna Brejchova, Frantisek Malinka, Lubica Dudakova & Petra Liskova. (2020) Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. Biomedical Papers 164:2, pages 183-188.
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Wenlin Zhang, J. Ben Margines, Deborah S. Jacobs, Yaron S. Rabinowitz, Evelyn Maryam Hanser, Tulika Chauhan, Doug Chung, Yelena Bykhovskaya, Ronald N. Gaster & Anthony J. Aldave. (2019) Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. Cornea 38:8, pages 1033-1039.
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Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Ilse Therésia Gabriëla Niewold, Muhammad Imran Khan & Arthur A. B. Bergen. (2019) Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. Cornea 38:6, pages 718-722.
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D.-P. Germain. (2017) Les syndromes d’Ehlers-Danlos. Annales de Dermatologie et de Vénéréologie 144:12, pages 744-758.
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Angela F. Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F. Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke & Fransiska Malfait. (2017) The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175:1, pages 70-115.
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Arif O. Khan. (2015) Brittle cornea syndrome: A case report and comparison with Ehlers Danlos syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 19:1, pages 96-97.
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Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson & Graeme CM Black. (2013) Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet Journal of Rare Diseases 8:1.
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Arif O. Khan. (2013) Ocular genetic disease in the Middle East. Current Opinion in Ophthalmology 24:5, pages 369-378.
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Marianne Rohrbach, Helen L. Spencer, Louise F. Porter, Emma M.M. Burkitt-Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al-Hussain, Matthias Baumgartner, Beat Steinmann, Graeme C.M. Black, Forbes D.C. Manson & Cecilia Giunta. (2013) ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Molecular Genetics and Metabolism 109:3, pages 289-295.
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