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157 related items for PubMed ID: 12912687
21. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE. Am J Med Genet; 1993 Apr 15; 46(2):203-8. PubMed ID: 8484411 [Abstract] [Full Text] [Related]
22. Pathognomonic (diagnostic) ERGs. A review and update. Vincent A, Robson AG, Holder GE. Retina; 2013 Jan 15; 33(1):5-12. PubMed ID: 23263253 [Abstract] [Full Text] [Related]
23. Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children. Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C. Eur J Ophthalmol; 2021 Nov 15; 31(6):3349-3354. PubMed ID: 33238767 [Abstract] [Full Text] [Related]
27. The Stickler syndrome: case reports and literature review. Bowling EL, Brown MD, Trundle TV. Optometry; 2000 Mar 15; 71(3):177-82. PubMed ID: 10970261 [Abstract] [Full Text] [Related]
29. A case of erosive vitreoretinopathy. Kyung SE, Chang MH, Ji JY. Korean J Ophthalmol; 2002 Jun 15; 16(1):47-51. PubMed ID: 12162518 [Abstract] [Full Text] [Related]
30. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A. Invest Ophthalmol Vis Sci; 2000 Aug 15; 41(9):2735-42. PubMed ID: 10937591 [Abstract] [Full Text] [Related]
32. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Ophthalmology; 2005 Aug 15; 112(8):1442-7. PubMed ID: 15953638 [Abstract] [Full Text] [Related]
33. Ophthalmic manifestations of Danon disease. Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N. Ophthalmology; 2006 Jun 15; 113(6):1010-3. PubMed ID: 16751040 [Abstract] [Full Text] [Related]
34. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Snead MP, Payne SJ, Barton DE, Yates JR, al-Imara L, Pope FM, Scott JD. Eye (Lond); 1994 Jun 15; 8 ( Pt 6)():609-14. PubMed ID: 7867814 [Abstract] [Full Text] [Related]
38. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. Passos-Bueno MR, Marie SK, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M. Am J Med Genet; 1994 Aug 15; 52(2):170-3. PubMed ID: 7802003 [Abstract] [Full Text] [Related]
39. [Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation]. Lang GE, Laudi B, Pfeiffer RA. Klin Monbl Augenheilkd; 1991 Mar 15; 198(3):207-14. PubMed ID: 2056740 [Abstract] [Full Text] [Related]