Article
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
Journal of child neurology - 1 Mar 2011
Maricich Stephen M, Aqeeb Kaashif A, Moayedi Yalda, Mathes Erin L, Patel Millan S, Chitayat David, Lyon Gilles, Leroy Jules G, Zoghbi Huda Y
Abstract excerpt
The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons, inferior olive, and cerebellum. Here, we briefly review these conditions and discuss genes recently discovered to be involved in pontocerebellar hypoplasia pathogenesis. We then present data that exclude several genes important for cerebellar...
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