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2. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E. Acta Ophthalmol; 2020 May; 98(3):e316-e321. PubMed ID: 31580008 [Abstract] [Full Text] [Related]
3. The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. Iannaccone A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale MR. Ophthalmic Genet; 1997 Mar; 18(1):13-26. PubMed ID: 9134546 [Abstract] [Full Text] [Related]
4. Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis. Cantani A, Bellioni P, Bamonte G, Salvinelli F, Bamonte MT. Clin Pediatr (Phila); 1985 Oct; 24(10):578-83. PubMed ID: 3896611 [Abstract] [Full Text] [Related]
11. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Edwards JA, Sethi PK, Scoma AJ, Bannerman RM, Frohman LA. Am J Med; 1976 Jan; 60(1):23-32. PubMed ID: 1251844 [Abstract] [Full Text] [Related]
12. Cohen syndrome: fertility in a female patient. Fryns JP, Lemmens F, van den Berghe H. Clin Genet; 1991 Dec; 40(6):461-4. PubMed ID: 1778007 [Abstract] [Full Text] [Related]
13. A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. Mitchell SJ, McHale DP, Campbell DA, Lench NJ, Mueller RF, Bundey SE, Markham AF. Am J Hum Genet; 1998 May; 62(5):1070-6. PubMed ID: 9545391 [Abstract] [Full Text] [Related]
14. Hypopigmentation of the fundi associated with Pallister-Killian syndrome. Birch M, Patterson A, Fryer A. J Pediatr Ophthalmol Strabismus; 1995 May; 32(2):128-31. PubMed ID: 7629670 [No Abstract] [Full Text] [Related]
18. Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome. Lavy T, Harris CM, Shawkat F, Thompson D, Taylor D, Kriss A. J Pediatr Ophthalmol Strabismus; 1995 Mar; 32(6):364-7. PubMed ID: 8587019 [Abstract] [Full Text] [Related]
19. The clinical features of the Cohen syndrome: further case reports. North C, Patton MA, Baraitser M, Winter RM. J Med Genet; 1985 Apr; 22(2):131-4. PubMed ID: 3989828 [Abstract] [Full Text] [Related]