Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 14

Der Typ 14 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
TMEM237
Joubert-Syndrom 15
Joubert-Syndrom 16
Joubert-Syndrom 17
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.

Chong JX et. al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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2.

Janecke AR et. al. (2004) Joubert-like syndrome unlinked to known candidate loci.

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3.

Boycott KM et. al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

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4.

Huang L et. al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

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5.

Schurig V et. al. (1980) The Meckel syndrome in the Hutterites.

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Update: 23. März 2018