Nephronophthiese 3
Die Nephronophthiese 3 ist eine autosomal rezessive vererbte medulläre Zystennierenerkrankung, die sich im Unterschied zu den anderen Formen der Nephronophthiese erst im Erwachsenenalter manifestiert.
Systematic
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References:
| 1. |
Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. [^] |
| 2. |
Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. [^] |
| 3. |
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. [^] |
| 4. |
Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis. [^] |
