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Joubert syndrome 07

Joubert syndrome type 7 is an autosomal recessive disorder caused by mutations in the RPGRIP1L gene.

Systematic

Joubert syndrome
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Joubert syndrome 07
RPGRIP1L
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References:

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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4.

OMIM.ORG article

Omim 611560 external link
Update: Aug. 14, 2020
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