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Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway
Holoprosencephaly (HPE) is a severe human genetic disease affecting craniofacial development, with an incidence of up to 1/250 human conceptions and 1.3 per 10,000 live births. Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutat...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3285584/ https://www.ncbi.nlm.nih.gov/pubmed/22383895 http://dx.doi.org/10.1371/journal.pgen.1002524 |