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SOX2 hypomorphism disrupts development of the prechordal floor and optic cup

Haploinsufficiency for the HMG-box transcription factor SOX2 results in abnormalities of the human ventral forebrain and its derivative structures. These defects include anophthalmia (absence of eye), microphthalmia (small eye) and hypothalamic hamartoma (HH), an overgrowth of the ventral hypothalam...

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Autors principals: Langer, Lee, Taranova, Olena, Sulik, Kathleen, Pevny, Larysa
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077342/
https://ncbi.nlm.nih.gov/pubmed/22522080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mod.2012.04.001
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