Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 06

Joubert syndrome type 6 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
TMEM67
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Romano S et. al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

[^]
2.

Baala L et. al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

[^]
3.

Otto EA et. al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

[^]
4.

Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

[^]
Update: Sept. 26, 2018