Article
[From gene to disease; POU1F1- and PROP1-mutations in pituitary hormone deficiency].
Nederlands tijdschrift voor geneeskunde - 15 Dec 2001
Wit J M, Vulsma T, de Vijlder J J
Abstract excerpt
Multiple pituitary hormone deficiency can be caused by mutations in at least three pituitary transcription factors: POU1F1 (formerly called PIT1), PROP1 or HESX1. The role of the various pituitary transcription factors in pituitary ontogeny has been elucidated in part for the mouse. In humans, mutations in POU1F1 result in a total deficiency of growth hormone and prolactin, and a variable deficiency of TSH. Cases...
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