Leber congenital amaurosis 07
Leber congenital amaurosis 7 is an autosomal recessive or dominant disorder caused by mutations of the CRX gene.
Furukawa T et. al. (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.[^]
Freund CL et. al. (1998) De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.[^]
Swaroop A et. al. (1999) Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.[^]
Nakamura M et. al. (2002) Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.[^]
Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.[^]