Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephronophthise 13

Der Typ 13 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen WDR19 hervorgerufen wird.

Gliederung

Nephronophthise
Nephronophthise 1
Nephronophthise 10
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
WDR19
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 2
Nephronophthise 3
Nephronophthise 4
Nephronophthise 5
Nephronophthise 6
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9

Referenzen:

1.

Bredrup C et. al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

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2.

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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