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NPHP3

MIM.608002 3q22

 

Pathology

-  germline mutations in adolescent nephronophthisis with tapeto-retinal degeneration and hepatic fibrosis (NPHP3 locus at 3q21-q22 (#12872122#).

References

-  Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003 Aug;34(4):455-9. PMID: #12872122#



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