Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding of the disruptions in the developmental programme that underpin brain defects associated with this syndrome. Using mouse models, we show tha...

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Bibliographic Details
Main Authors: Tian Yu, Linda C Meiners, Katrin Danielsen, Monica TY Wong, Timothy Bowler, Danny Reinberg, Peter J Scambler, Conny MA van Ravenswaaij-Arts, M Albert Basson
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2013-12-01
Series:eLife
Subjects:
cerebellum
CHARGE syndrome
CHD7
FGF8
OTX2
GBX2
Online Access:https://elifesciences.org/articles/01305

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