Associated Papers
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T et al.
Human Mutation, 2021
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2016
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Porter LF et al.
Human Molecular Genetics, 2015
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Porter LF et al.
Orphanet Journal of Rare Diseases, 2015
Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.
Avgitidou G et al.
Case Reports in Ophthalmological Medicine, 2015
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Rohrbach M et al.
Molecular Genetics and Metabolism, 2013
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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