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- Title
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
- Authors
Kelberman, D; Turton, J P G; Woods, K S; Mehta, A; Al-Khawari, M; Greening, J; Swift, P G F; Otonkoski, T; Rhodes, S J; Dattani, M T
- Abstract
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 from a large cohort of patients with variable degrees of CPHD who were screened for mutations in PROP1.
- Publication
Clinical endocrinology, 2009, Vol 70, Issue 1, p96
- ISSN
1365-2265
- Publication type
Journal Article
- DOI
10.1111/j.1365-2265.2008.03326.x