Associated Papers
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Suzuki O et al.
Molecular Vision, 2009
Mutations in collagen 18A1 and their relevance to the human phenotype.
Passos-Bueno MR et al.
Anais Da Academia Brasileira De Ciencias, 2006
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
Suzuki OT et al.
Human Mutation, 2005
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye.
Duh EJ et al.
Ophthalmology, 2004
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
Suzuki OT et al.
American Journal of Human Genetics, 2002
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