Article
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Journal of medical genetics - 1 Jun 2011
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 excerpt
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 hybridisation and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.