Serap Teber, Taner Sezer, Mehpare Kafalı, M

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Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene Serap Teber, Taner Sezer, Mehpare Kafalı, M. Chiara Manzini, Berrin Konuk Yüksel, Mustafa Tekin, Suat Fitöz, Christopher A. Walsh, Gülhis Deda European Journal of Paediatric Neurology Volume 12, Issue 2, Pages 133-136 (March 2008) DOI: 10.1016/j.ejpn.2007.06.008 Copyright © 2007 European Paediatric Neurology Society Terms and Conditions

Fig. 1 (A) Sagittal T1-weighed MR image demonstrating hypoplastic brainstem and cerebellar vermis, severe hydrocephalus and thin corpus callosum in the younger sibling. (B) Axial T1-weighed MR image showing lissencephaly and enlarged lateral ventricles in the younger sibling. European Journal of Paediatric Neurology 2008 12, 133-136DOI: (10.1016/j.ejpn.2007.06.008) Copyright © 2007 European Paediatric Neurology Society Terms and Conditions

Fig. 2 (A) Sagittal T1-weighed MR image demonstrating hypoplastic brainstem and cerebellar vermis. (B) Coranal flair T2-weighed image demonstrating lissencephaly and enlarged lateral ventricles with periventricular hyperintense areas. European Journal of Paediatric Neurology 2008 12, 133-136DOI: (10.1016/j.ejpn.2007.06.008) Copyright © 2007 European Paediatric Neurology Society Terms and Conditions