Associated Papers
Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.
Alzaben KA et al.
Ophthalmology. Retina, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R et al.
Experimental Eye Research, 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
Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2021
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