A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14

Author:

Black Graeme C.M,Perveen Rahat,Wiszniewski Wojtek,Dodd Christopher L,Donnai Dian,McLeod David

Publisher

Elsevier BV

Subject

Ophthalmology

Reference25 articles.

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2. Hereditary progressive arthro-ophthalmopathy;Stickler;Mayo Clin Proc,1965

3. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect;Winterpacht;Nat Genet,1993

4. A family with Stickler syndrome type 2 has a mutation in the COl11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen;Richards;Hum Mol Genet,1996

5. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13–14;Brown;Arch Ophthalmol,1995

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1. WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family;Graefe's Archive for Clinical and Experimental Ophthalmology;2017-10-25

2. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.;Human Molecular Genetics;2017-01-10

3. Genetic pediatric retinal diseases;Journal of Pediatric Genetics;2015-07-27

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5. Congenital Cataracts and Genetic Anomalies of the Lens;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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