Article
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
American journal of human genetics - 1 Dec 2002
Suzuki O T, Sertié A L, Der Kaloustian V M, Kok F, Carpenter M, Murray J, Czeizel A E, Kliemann S E, Rosemberg S, Monteiro M, Olsen B R, Passos-Bueno M R
Abstract excerpt
Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. The responsible gene, COL18A1, has been mapped to 21q22.3, and, on the basis of the analysis of one family, we have demonstrated that a mutation affecting only one of the three COL18A1 isoforms causes this phenotype. We report here...
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