Knobloch syndrome 1 is an autosomal recessive disorder caused by mutations of the collagen gene COL18A1. The clinical picture includes various eye abnormalities, such as high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment. Also found can be occipital skull defects.
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Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. |
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Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. |
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Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. |
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Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. |
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OMIM.ORG article Omim 267750 |