Browsing by Keywords "Cerebellar hypoplasia"
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Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
(Nature Publishing Group, 2013)Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ... -
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
(Springer, 2010)Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...