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Joubert syndrome 03

Joubert syndrome 3 is an autosomal recessive disorder caused by mutations of the AHI1 gene.

Systematic

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AHI1
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References:

1.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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2.

Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

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3.

Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

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4.

Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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5.

Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

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6.

Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

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7.

Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

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8.

Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

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9.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

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10.

Lagier-Tourenne C et al. (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23.

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11.

OMIM.ORG article

Omim 608629 external link
Update: Aug. 14, 2020
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