Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 21

Joubert syndrome 21 is an autosomal recessive disorder caused by mutations of the CSPP1 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
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Joubert syndrome 07
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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
CSPP1
Joubert syndrome 22
Joubert syndrome 23
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Joubert syndrome 35

References:

1.

Shaheen R et. al. (2014) Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

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2.

Akizu N et. al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome.

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3.

Tuz K et. al. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

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Update: Oct. 11, 2018