Article
A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Aug 1996
Pellegrini-Bouiller I, Bélicar P, Barlier A, Gunz G, Charvet J P, Jaquet P, Brue T, Vialettes B, Enjalbert A
Abstract excerpt
The pituitary-specific transcription factor Pit-1/GHF1 regulates the expression of PRL, GH, and TSH beta genes through binding to specific regions of the promoters of these genes. Mutations of the Pit-1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including complete GH and PRL deficiencies and central hypothyroidism. We studied four siblings presenting...
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