Revesz syndrome
Definition:
References:
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[1]. A Riyaz, et al. Revesz syndrome. Indian J Pediatr. 2007 Sep;74(9):862-3. [Content Brief]
[2]. Amanda J Walne, et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. [Content Brief]
[3]. T Revesz, et al. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?. J Med Genet. 1992 Sep;29(9):673-5. [Content Brief]