A novel mutation in PRDM5 in brittle cornea syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01808.x/fullpdf
Reference8 articles.
1. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.;Al-Hussain;Am J Med Genet A,2004
2. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.;Abu;Am J Hum Genet,2008
3. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).;Khan;Arch Ophthalmol,2010
4. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.;Aldahmesh;J Med Genet,2011
5. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.;Burkitt Wright;Am J Hum Genet,2011
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