Associated Papers
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2019
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.
Davidson AE et al.
Investigative Ophthalmology & Visual Science, 2015
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.
Ramappa M et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
Al-Owain M et al.
Gene, 2012
Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.
Khan AO et al.
Ophthalmic Genetics, 2012
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM et al.
American Journal of Human Genetics, 2011
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