Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

Author:

Bennouna-Greene V,Kremer S,Stoetzel C,Christmann D,Schuster C,Durand M,Verloes A,Sigaudy S,Holder-Espinasse M,Godet J,Brandt C,Marion V,Danion A,Dietemann J-L,Dollfus H

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. The neuronal primary cilium-an extrasynaptic signaling device.;Whitfield;Cell Signal,2004

2. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.;Beales;J Med Genet,1999

3. Behavioural phenotype of Bardet-Biedl syndrome.;Barnett;J Med Genet,2002

4. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.;Davis;Proc Natl Acad Sci U S A,2007

5. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin;Nishimura;Proc Natl Acad Sci U S A,2004

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