Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 1. |
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. [^] |
| 2. |
O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis. [^] |
| 3. |
Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? [^] |
| 4. |
Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. [^] |
| 5. |
OMIM.ORG article Omim 602088 [^] |
| 6. |
Orphanet article Orphanet ID 93591 [^] |
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