Variante genética del síndrome de Stickler
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference10 articles.
1. Stickler's syndrome: A study of 12 families;Spallone;Br J Ophthalmol,1987
2. Clinical and molecular genetics of Stickler syndrome;Snead;J Med Genet,1999
3. Identification of a stop codon mutation in exon 2 of the collagen 2a1 gene in a large stickler syndrome family;Donoso;Am J Ophtalmol,2002
4. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment;Richards;Invest Ophthalmol Vis Sci,2005
5. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations;Parma;Am J Ophthalmol,2002
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