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4. Bilateral Exudative Retinopathy in a Child with Revesz Syndrome, a Severe Variant of Dyskeratosis Congenita. Adams C; Say E; Cheeseman EW Ophthalmol Retina; 2021 Nov; 5(11):1106. PubMed ID: 34752304 [No Abstract] [Full Text] [Related]
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14. Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. Kanegane H; Kasahara Y; Okamura J; Hongo T; Tanaka R; Nomura K; Kojima S; Miyawaki T Br J Haematol; 2005 May; 129(3):432-4. PubMed ID: 15842668 [TBL] [Abstract][Full Text] [Related]
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16. Molecular medicine and bone marrow failure syndromes. Alter BP J Pediatr; 2000 Mar; 136(3):275-6. PubMed ID: 10700677 [No Abstract] [Full Text] [Related]
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18. Dyskeratosis congenita. A disease of premature ageing. Dokal I Lancet; 2001 Dec; 358 Suppl():S27. PubMed ID: 11784576 [No Abstract] [Full Text] [Related]
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20. Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome. Sakwit A; Rojanaporn D; Mekjaruskul P; Suriyajakryuththana W; Sasanakul W; Sirachainan N Pediatr Blood Cancer; 2019 Mar; 66(3):e27557. PubMed ID: 30478948 [No Abstract] [Full Text] [Related] [Next] [New Search]