Associated Papers
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
AlEissa MM et al.
Genes, 2025
Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.
Alzaben KA et al.
Ophthalmology. Retina, 2024
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Patel CK et al.
Ophthalmic Genetics, 2022
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Chong SC et al.
Frontiers in Neurology, 2022
35693012 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1
Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
Li S et al.
Genes, 2021
34680907 (PubMed )
Supplement: genes-12-01512-s001.zip › Table-S.pdf
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S et al.
Jama Ophthalmology, 2016
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Caglayan AO et al.
Pediatric Neurology, 2014
The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO et al.
The British Journal of Ophthalmology, 2012
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA et al.
Journal of Medical Genetics, 2011
Select a paper to view details