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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...

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Detalles Bibliográficos
Autores principales: Taniguchi, Kenichiro, Anderson, Anoush E., Sutherland, Ann E., Wotton, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
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