Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 17

Der Typ 17 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM237 hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 12
Joubert-Syndrom 13
Joubert-Syndrom 14
Joubert-Syndrom 15
Joubert-Syndrom 16
Joubert-Syndrom 17
C5ORF42
Joubert-Syndrom 19
Joubert-Syndrom 2
Joubert-Syndrom 23
Joubert-Syndrom 24
Joubert-Syndrom 27
Joubert-Syndrom 3
Joubert-Syndrom 31
Joubert-Syndrom 34
Joubert-Syndrom 6
Joubert-Syndrom 7
Joubert-Syndrom 8
Joubert-Syndrom 9
Joubert-Syndroms 11
SUFU

Referenzen:

1.

Bachmann-Gagescu R et. al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

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2.

Joubert M et. al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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3.

Srour M et. al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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4.

Damerla RR et. al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

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Update: 23. März 2018