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Joubert syndrome 06

Joubert syndrome type 6 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.

Systematic

Joubert syndrome
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TMEM67
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References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

OMIM.ORG article

Omim 610688 external link
Update: Aug. 14, 2020
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