Go to content
UR Home

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

URN to cite this document:
urn:nbn:de:bvb:355-epub-361210
DOI to cite this document:
10.5283/epub.36121
Kortüm, Fanny ; Das, Soma ; Flindt, Max ; Uyanik, Gökhan
[img]
Preview
License: Allianz- bzw. Nationallizenz
PDF - Published Version
(1MB)
Date of publication of this fulltext: 30 Aug 2017 13:25


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 ...

plus


Owner only: item control page
  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de
0941 943 -4239 or -69394

Dissertations: dissertationen@ur.de
0941 943 -3904

Research data: daten@ur.de
0941 943 -5707

Contact persons