Associated Papers
New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
García de Oteyza G et al.
Cornea, 2023
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
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
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
22908982 (PubMed )
Supplement: 1750-1172-7-52-S1.xlsx › Feuil1
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
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
Abu A et al.
American Journal of Human Genetics, 2008
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