Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 04

Joubert syndrome 4 is an autosomal recessive disorder caused by mutations of the NPHP1 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
NPHP1
Joubert syndrome 05
Joubert syndrome 06
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References:

1.

Parisi MA et. al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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2.

Parisi MA et. al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

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Update: Oct. 11, 2018