Senior–Loken syndrome

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An autosomal recessive disease characterized by nephronophthisis and Leber congenital amaurosis. Senior–Loken syndrome-1 (SLSN1) is caused by mutation in the gene encoding nephrocystin 1, SLSN4 is associated with mutation in nephrocystin 4, SLSN5 with mutation in nephrocystin 5. SLSN6 is caused by mutation in nephrocystin 6, a centrosomal protein that is also mutated in Joubert's syndrome type 5.

Subjects: Medicine and Health.

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