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A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
BACKGROUND: GLI2 encodes for a transcription factor that controls the expression of several genes in the Hedgehog pathway. Mutations in GLI2 have been described as causative of a spectrum of clinical phenotypes, notably holoprosencephaly, hypopituitarism and postaxial polydactyl. METHODS: In order t...
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| Publicado no: | PLoS One |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6328167/ https://ncbi.nlm.nih.gov/pubmed/30629636 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0210097 |
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