The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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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.
Bibliographical data
| Original language | English |
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| Article number | 6 |
| ISSN | 0022-2593 |
| Publication status | Published - 2011 |
| pubmed | 21441262 |
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