Associated Papers
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
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Suzuki O et al.
Molecular Vision, 2009
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