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-  2016 

Brain morphometry in Pontocerebellar Hypoplasia type 2

DOI: 10.1186/s13023-016-0481-4

Keywords: Pontocerebellar hypoplasia type 2, Mental retardation, Microcephaly, Brain morphometry, Cerebellum, Brain stem, Pons, Frontal lobe

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Abstract:

Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2

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