Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male...

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Detalhes bibliográficos
Main Authors: Kelberman, Daniel, Rizzoti, Karine, Avilion, Ariel, Bitner-Glindzicz, Maria, Cianfarani, Stefano, Collins, Julie, Chong, W. Kling, Kirk, Jeremy M.W., Achermann, John C., Ross, Richard, Carmignac, Danielle, Lovell-Badge, Robin, Robinson, Iain C.A.F., Dattani, Mehul T.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2006
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1551933/
https://ncbi.nlm.nih.gov/pubmed/16932809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI28658
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