Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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
Mutations in collagen 18A1 and their relevance to the human phenotype.
Passos-Bueno MR et al.
Anais Da Academia Brasileira De Ciencias, 2006
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
Sertié AL et al.
Human Molecular Genetics, 2000
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