| A phenotypic variant of Knobloch syndrome. | |
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MedLine Citation:
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PMID: 18484314 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Knobloch syndrome (KNO) is a rare autosomal recessive condition caused by pathogenic mutations in the COL18A1 gene. It is characterized by high myopia, vitreoretinal degeneration, retinal detachment and midline encephalocoele or midline occipital bone defect. We report a case of KNO confirmed by direct sequence analysis of the COL18A1 gene with typical ocular features, and previously unreported systemic features: occipital hair tuft with transient CSF leak and bilateral renal abnormalities. This case illustrates a new phenotypic variant of this syndrome. |
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Authors:
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Theresa Anne Williams; Graham R Kirkby; Denise Williams; John R Ainsworth |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 29 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-19 Completed Date: 2008-07-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 85-6 Citation Subset: IM |
Affiliation:
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Birmingham and Midland Eye Centre, City Hospital, Birmingham, England. tawilli40@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Collagen Type XVIII / genetics* Encephalocele / genetics Eye Diseases, Hereditary / genetics* Genes, Recessive Hair / abnormalities* Humans Infant Kidney / abnormalities* Male Mutation / genetics Myopia / genetics* Phenotype Retinal Degeneration / genetics* Retinal Detachment / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Collagen Type XVIII |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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