SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

CONTEXT: Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism. Variable additional abnormalities include defects of the corpus callosum and hippocampus. OBJECTIVE: We have ascertained a further three...

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主要な著者: Kelberman, Daniel, de Castro, Sandra C. P., Huang, Shuwen, Crolla, John A., Palmer, Rodger, Gregory, John W., Taylor, David, Cavallo, Luciano, Faienza, Maria F., Fischetto, Rita, Achermann, John C., Martinez-Barbera, Juan Pedro, Rizzoti, Karine, Lovell-Badge, Robin, Robinson, Iain C. A. F., Gerrelli, Dianne, Dattani, Mehul T.
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3479085/
https://ncbi.nlm.nih.gov/pubmed/18285410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-2337
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