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

Kelberman, D., Turton, J.P.G., Woods-Townsend, Kathryn, Mehta, A., Al-Khawari, M., Greening, J., Swift, P.G F., Otonkoski, T., Rhodes, S.J. and Dattani, M.T. (2009) Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD) Clinical Endocrinology, 70, (1), pp. 96-103. (doi:10.1111/j.1365-2265.2008.03326.x). (PMID:19128366).

Record type: Article

Abstract

Mutations in PROP1 are a frequent cause of familial CPHD. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. The phenotypic variation observed in association with PROP1 mutations both within and between families, together with the evolving nature of hormone deficiencies and sometimes changing pituitary morphology indicates a need for continual monitoring of these patients.

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Published date: January 2009
Organisations: Human Development & Health, Mathematics, Science & Health Education

Identifiers

Local EPrints ID: 340430
URI: http://eprints.soton.ac.uk/id/eprint/340430
PURE UUID: 9bf87863-59b5-4c20-abec-f18929ec5d2a
ORCID for Kathryn Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 21 Jun 2012 13:21
Last modified: 18 Jul 2017 05:44

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Contributors

Author: D. Kelberman
Author: J.P.G. Turton
Author: A. Mehta
Author: M. Al-Khawari
Author: J. Greening
Author: P.G F. Swift
Author: T. Otonkoski
Author: S.J. Rhodes
Author: M.T. Dattani

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