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Joubert syndrome 26

Joubert syndrome 26 is an autosomal recessive disorder caused by mutations of the KIAA0556 gene.

Systematic

Joubert syndrome
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Joubert syndrome 26
KIAA0556
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References:

1.

Sanders AA et al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

external link
2.

Roosing S et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

external link
3.

OMIM.ORG article

Omim 616784 external link
Update: Aug. 14, 2020
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