Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review
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TPIT is a transcription factor required for POMC gene expression and pituitary corticotroph cell differentiation and is encoded by TBX19. Variants in TBX19 cause early onset congenital isolated ACTH insufficiency with a mortality rate of up to 25% in the neona... ...
