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Leber congenital amaurosis 1
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- ... Testing Registry: Leber congenital amaurosis Genetic Testing Registry: Leber congenital amaurosis 1 Genetic Testing Registry: Leber congenital amaurosis 10 Genetic ...
- ... SG. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. ...
- ... as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin- ...
- ... be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is part ...