Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
García de Oteyza G et al.
Cornea, 2023
A mouse model of brittle cornea syndrome caused by mutation in Zfp469.
Stanton CM et al.
Disease Models & Mechanisms, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T et al.
Human Mutation, 2021
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
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
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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