Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 6

Der Typ 6 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM67 hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 3
Joubert-Syndrom 6
TMEM67
Joubert-Syndrom 7
Joubert-Syndrom 9
Joubert-Syndroms 11
Joubert-Syndroms 19

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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