Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 15

Nephronophthisis type 15 is an autosomal recessive disorder caused by mutations in the CEP164 gene.

Systematic

Nephronophthisis
Nephronophthisis 01
Nephronophthisis 02
Nephronophthisis 03
Nephronophthisis 04
Nephronophthisis 05
Nephronophthisis 06
Nephronophthisis 07
Nephronophthisis 08
Nephronophthisis 09
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
CEP164
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis-like nephropathy 1

References:

1.

Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

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2.

OMIM.ORG article

Omim 614845 [^]
Update: April 29, 2019