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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 features, sometimes associated with hypopituitarism.

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