Lebersche kongenitale Amaurose 7 ist eine autosomal rezessive oder dominante Erkrankung, die auf Mutationen des CRX-Gens beruht.
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Furukawa T et al. (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. |
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Freund CL et al. (1998) De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. |
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Nakamura M et al. (2002) Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. |
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Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. |
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OMIM.ORG article Omim 613829 |