Senior-Loken syndrome 5 is an autosomal recessive disorders caused by mutations of the IQCB1 gene. It is characterized by medullary cysts and progressive renal failure and Leber congenital amaurosis.
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Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. |
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Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. |
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OMIM.ORG article Omim 609254 |