Associated Papers
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Vasilyeva T et al.
Genes, 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
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
Suzuki OT et al.
Human Mutation, 2005
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