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PMID:18285410
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Citation |
Kelberman, D, de Castro, SC, Huang, S, Crolla, JA, Palmer, R, Gregory, JW, Taylor, D, Cavallo, L, Faienza, MF, Fischetto, R, Achermann, JC, Martinez-Barbera, JP, Rizzoti, K, Lovell-Badge, R, Robinson, IC, Gerrelli, D and Dattani, MT (2008) SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J. Clin. Endocrinol. Metab. 93:1865-73 |
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Abstract |
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. |
Links |
PubMed Online version:10.1210/jc.2007-2337 |
Keywords |
Adolescent; Adult; Child; DNA-Binding Proteins/genetics; DNA-Binding Proteins/physiology; Eye/embryology; Eye Abnormalities/etiology; Eye Abnormalities/genetics; Female; HMGB Proteins/genetics; HMGB Proteins/physiology; Humans; Hypopituitarism/etiology; Hypopituitarism/genetics; Mutation; Pituitary Gland/embryology; Prosencephalon/embryology; RNA, Messenger/analysis; SOXB1 Transcription Factors; Signal Transduction; Transcription Factors/genetics; Transcription Factors/physiology; beta Catenin/physiology |
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