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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書誌詳細
主要な著者: Fanny Kortüm, Soma Das, M. Flindt, Deborah J. Morris‐Rosendahl, Iliyana Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, A. Roumer, Sulagna C. Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanık, Kerstin Kutsche, William B. Dobyns
フォーマット: Artigo
言語:英語
出版事項: 2011
オンライン・アクセス:https://doi.org/10.1136/jmg.2010.087528
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