The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Beteiligte Einrichtungen
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.
Bibliografische Daten
| Originalsprache | Englisch |
|---|---|
| Aufsatznummer | 6 |
| ISSN | 0022-2593 |
| Status | Veröffentlicht - 2011 |
| pubmed | 21441262 |
|---|
