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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Detalles Bibliográficos
Autores principales: Valenza, Fabiola, Cittaro, Davide, Stupka, Elia, Biancolini, Donatella, Patricelli, Maria Grazia, Bonanomi, Dario, Lazarević, Dejan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328167/
https://www.ncbi.nlm.nih.gov/pubmed/30629636
http://dx.doi.org/10.1371/journal.pone.0210097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328167/
https://www.ncbi.nlm.nih.gov/pubmed/30629636
http://dx.doi.org/10.1371/journal.pone.0210097

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