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14. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV. Am J Med Genet; 1996 Jun 14; 63(3):461-7. PubMed ID: 8737653 [Abstract] [Full Text] [Related]
15. Inherited hyaloideoretinopathy and skeletal dysplasia. Knobloch WH. Trans Am Ophthalmol Soc; 1975 Jun 14; 73():417-51. PubMed ID: 1246812 [Abstract] [Full Text] [Related]
16. Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). Popkin JS, Polomeno RC. Can Med Assoc J; 1974 Nov 16; 111(10):1071-6. PubMed ID: 4429933 [Abstract] [Full Text] [Related]
17. Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. Hall J. Birth Defects Orig Artic Ser; 1974 Nov 16; 10(8):157-71. PubMed ID: 4218495 [No Abstract] [Full Text] [Related]
18. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP. Ophthalmology; 2008 Jan 16; 115(1):164-8. PubMed ID: 17675240 [Abstract] [Full Text] [Related]
19. Hereditary progressive arthro-ophthalmopathy of Stickler. Blair NP, Albert DM, Liberfarb RM, Hirose T. Am J Ophthalmol; 1979 Nov 16; 88(5):876-88. PubMed ID: 507166 [Abstract] [Full Text] [Related]
20. [Prevention of retinal detachment in Wagner-Stickler disease. Comparative study of different methods. Apropos of 22 cases]. Monin C, Van Effenterre G, Andre-Sereys P, Haut J. J Fr Ophtalmol; 1994 Nov 16; 17(3):167-74. PubMed ID: 8182253 [Abstract] [Full Text] [Related] Page: [Next] [New Search]