The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
<h3>Background</h3> Submicroscopic deletions in 14q12 spanning <i>FOXG1</i> 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 phen...
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主要な著者: | , , , , , , , , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | 英語 |
出版事項: |
2011
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オンライン・アクセス: | https://doi.org/10.1136/jmg.2010.087528 |
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