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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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Detalhes bibliográficos
Main Authors: Langer, Lee, Taranova, Olena, Sulik, Kathleen, Pevny, Larysa
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha: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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