Article
Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.
Molecular endocrinology (Baltimore, Md.) - 1 Mar 2001
Vallette-Kasic S, Pellegrini-Bouiller I, Sampieri F, Gunz G, Diaz A, Radovick S, Enjalbert A, Brue T
Abstract excerpt
The pituitary-specific transcription factor Pit-1 (pituitary-specific factor 1) is known to play a key role in the differentiation of PRL-, GH-, and TSH-secreting cells, and in the regulation of expression of the corresponding genes. In recent years, 12 distinct mutations of the Pit-1 gene have been shown to be responsible for a phenotype of multiple congenital pituitary hormone deficiency involving PRL, GH, and...
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