Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 7

Nephronophthisis type 7 is an autosomal recessive disorder caused by mutations in the GLIS2 gene.

Systematic

Nephronophthisis
Nephronophthisis 1
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 2
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 5
Nephronophthisis 6
Nephronophthisis 7
GLIS2
Nephronophthisis 8
Nephronophthisis 9
Nephronophthisis-like nephropathy 1

References:

1.

Halbritter J et. al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

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2.

Attanasio M et. al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

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Update: Sept. 26, 2018