Article
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
The Journal of clinical endocrinology and metabolism - 1 May 2008
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
Abstract excerpt
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 patients with severe eye defects and pituitary abnormalities who were screened for mutations in SOX2. To provide...
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