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Joubert syndrome 14

Joubert syndrome type 14 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.

Systematic

Joubert syndrome
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Joubert syndrome 13
Joubert syndrome 14
TMEM237
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References:

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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6.

OMIM.ORG article

Omim 614424 external link
Update: Aug. 14, 2020
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