Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephronophthise 7

Der Typ 7 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen GLIS2 hervorgerufen wird.

Gliederung

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

Referenzen:

1.

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

[^]
2.

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

[^]