Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndroms 7

Der Typ 7 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen RPGRIP1L hervorgerufen wird.

Gliederung

Ziliopathie
Joubert-Syndrom 3
Joubert-Syndroms 11
Joubert-Syndroms 19
Joubert-Syndroms 6
Joubert-Syndroms 7
RPGRIP1L
Lebersche kongenitale Amaurose
Nephronophthise
Senior-Loken-Syndrom

Referenzen:

1.

Arts HH et. al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

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2.

Delous M et. al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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3.

Brancati F et. al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

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