Identification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

Medicine, Clinical Sciences, Pediatrics +11

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Yi Lu, David P. Dimasi, Pirro G. Hysi et al. · PLoS Genetics · 2010 · 153 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8

Véronique Vitart, Goran Benčić, Caroline Hayward et al. · Human Molecular Genetics · 2010 · 150 citations · Full text

Life Sciences, Genetics, Ophthalmology +14

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Almogit Abu, Moshe Frydman, Dina Marek et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 136 citations · Full text

Life Sciences, Genetics, Molecular Biology +12