Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

CONTEXT: The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like featur...

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Autores principales: Flemming, G. M. C., Klammt, J., Ambler, G., Bao, Y., Blum, W. F., Cowell, C., Donaghue, K., Howard, N., Kumar, A., Sanchez, J., Stobbe, H., Pfäffle, R. W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2013
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590478/
https://ncbi.nlm.nih.gov/pubmed/23408573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3224
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