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Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in  POU1F1 , altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of routine molecular diagnosis of this condition, to investigate alternative splicing in  POU1F1  as well as in other genes.

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform