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Last Updated: 10/31/2025
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Found 83 publications
Ocular manifestations and genetic aspects of Ehlers-Danlos syndrome
Journal: Vestnik oftalmologii
Published: July 01, 2025
Brittle Cornea Syndrome: Molecular Diagnosis and Management.
Journal: Diagnostics (Basel, Switzerland)
Published: May 19, 2025
A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of the ZNF469 Gene to Arterial Aneurysmal and Dissection Diseases.
Journal: International journal of molecular sciences
Published: October 25, 2024
Brittle Cornea Syndrome Type 1 in Siblings: Severe Presentation in One and Misdiagnosis as Primary Congenital Glaucoma in the Other.
Journal: Cornea
Published: October 20, 2024
On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.
Journal: FEBS open bio
Published: June 08, 2024
An Eye into the Aorta: The Role of Extracellular Matrix Regulatory Genes ZNF469 and PRDM5, from Their Previous Association with Brittle Cornea Syndrome to Their Novel Association with Aortic and Arterial Aneurysmal Diseases.
Journal: International journal of molecular sciences
Published: April 29, 2024
Cataract surgery complications in a patient with brittle cornea syndrome and Ehlers-Danlos syndrome type six: A case report.
Journal: American journal of ophthalmology case reports
Published: April 15, 2024
Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.
Journal: Ophthalmic genetics
Published: January 30, 2024
Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: November 19, 2023
Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus.
Journal: Heliyon
Published: June 11, 2023
Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome.
Journal: Investigative ophthalmology & visual science
Published: May 31, 2023
Last Updated: 10/31/2025