Nephronophthisis 2 602088
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Clinical feature:
Definition: Infantile nephronophthisis is an autosomal recessive disease characterized by medullary renal cysts and severe renal failure within the first month of life, often accompanied by situs inversus.
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Literature:
O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis. Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.