Leber congenital amaurosis 1 is an autosomal recessive disorder caused by mutations of the GUCY2D gene.
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Milam AH et al. (2003) Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. |
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Ehara H et al. (1997) New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. |
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Lambert SR et al. (1993) Concordance and recessive inheritance of Leber congenital amaurosis. |
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None (1968) Leber's congenital tapetoretinal degeneration. |
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Rahn EK et al. (1968) Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family. |
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Ek J et al. (1986) Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. |
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Schroeder R et al. (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. |
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Hayasaka S et al. (1986) Leber's congenital amaurosis associated with hyperthreoninemia. |
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Russell-Eggitt IM et al. (1989) Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. |
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Wagner RS et al. (1985) High hyperopia in Leber's congenital amaurosis. |
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Riess O et al. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. |
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Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. |
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Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. |
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Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. |
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Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. |
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Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. |
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Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. |
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Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p. |
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OMIM.ORG article Omim 204000 |