Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephronophthisis type 11 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.
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Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. 
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| 2. |
Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
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| 3. |
OMIM.ORG article Omim 613550
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| 4. |
Orphanet article Orphanet ID 140976
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