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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

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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