Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

Abstract

OBJECTIVE Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency. We have ascertained three pedigrees with PROP1 mutations… (More)
DOI: 10.1111/j.1365-2265.2008.03326.x

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@article{Kelberman2009MolecularAO, title={Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).}, author={Dan Kelberman and James Turton and Kathryn S Woods and Ameeta Mehta and Mona A Al-Khawari and James Greening and Peter G F Swift and Timo Otonkoski and Simon Rhodes and Mehul Tulsidas Dattani}, journal={Clinical endocrinology}, year={2009}, volume={70 1}, pages={96-103} }