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- Title
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
- Authors
Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence E; Wieczorek, Dagmar; Uyanik, Gökhan; Kutsche, Kerstin; Dobyns, William B
- Abstract
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.
- Publication
Journal of medical genetics, 2011, Vol 48, Issue 6, p396
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.087528