KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

doi:10.1186/s13059-015-0858-z

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Article

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Genome biology - 29 Dec 2015

Sanders Anna A W M, de Vrieze Erik, Alazami Anas M, Alzahrani Fatema, Malarkey Erik B, Sorusch Nasrin, Tebbe Lars, Kuhns Stefanie, van Dam Teunis J P, Alhashem Amal, Tabarki Brahim, Lu Qianhao, Lambacher Nils J, Kennedy Julie E, Bowie Rachel V, Hetterschijt Lisette, van Beersum Sylvia, van Reeuwijk Jeroen, Boldt Karsten, Kremer Hannie, Kesterson Robert A, Monies Dorota, Abouelhoda Mohamed, Roepman Ronald, Huynen Martijn H, Ueffing Marius, Russell Rob B, Wolfrum Uwe, Yoder Bradley K, van Wijk Erwin, Alkuraya Fowzan S, Blacque Oliver E

Abstract excerpt

BACKGROUND: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. RESULTS: Using autozygome and exome analyses, we identified a null...

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PMID: 26714646
DOI: 10.1186/s13059-015-0858-z
PMCID: PMC4699358

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