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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Kortüm, Fanny, Das, Soma, Flindt, Max and Uyanik, Gökhan (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48, pp. 396-406.

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Abstract

Background: Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. This study aimed to further characterise and delineate the phenotype of FOXG1 mutation positive patients. Method: The study mapped the breakpoints of a 2;14 translocation by fluorescence in situ ...

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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Neurologie
Identification Number:
ValueType
10.1136/jmg.2010.087528DOI
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:36121
Owner only: item control page

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