Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
PROP1 mutations are rare in sporadic cases of CPHD, although the prevalence rises if there is a positive family history or if the patients are carefully selected with respect to the endocrine and neuroradiological phenotype. There is considerable phenotypic variability in families with the same mutation, indicating the role of other genetic or environmental factors on phenotypic expression. Finally, the pituitary enlargement that is observed in patients with PROP1 mutations can wax and wane in size before eventual involution.
10-18
Turton, James P.G.
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Mehta, Ameeta
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Raza, Jamal
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Woods-Townsend, Kathryn
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Tiulpakov, Anatoly
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Cassar, Joseph
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Chong, Kling
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Thomas, Paul Q.
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Eunice, Marumudi
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Ammini, Ariachery C.
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Bouloux, Pierre M.
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Starzyk, Jerzy
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Hindmarsh, Peter C.
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Dattani, Mehul T.
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July 2005
Turton, James P.G.
91acf9c8-c726-4157-a0ff-7e2c03a3fc46
Mehta, Ameeta
e168bd92-07e4-40bc-b121-6ff255b36502
Raza, Jamal
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Woods-Townsend, Kathryn
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Tiulpakov, Anatoly
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Cassar, Joseph
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Chong, Kling
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Thomas, Paul Q.
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Eunice, Marumudi
db06c9ff-ed96-4f0b-8297-f333f4c7fbd5
Ammini, Ariachery C.
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Bouloux, Pierre M.
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Starzyk, Jerzy
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Hindmarsh, Peter C.
132a86fd-5d29-4dc2-a01b-ffa1a5665746
Dattani, Mehul T.
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Turton, James P.G., Mehta, Ameeta, Raza, Jamal, Woods-Townsend, Kathryn, Tiulpakov, Anatoly, Cassar, Joseph, Chong, Kling, Thomas, Paul Q., Eunice, Marumudi, Ammini, Ariachery C., Bouloux, Pierre M., Starzyk, Jerzy, Hindmarsh, Peter C. and Dattani, Mehul T.
(2005)
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Clinical Endocrinology, 63 (1), .
(doi:10.1111/j.1365-2265.2005.02291.x).
(PMID:15963055)
Abstract
PROP1 mutations are rare in sporadic cases of CPHD, although the prevalence rises if there is a positive family history or if the patients are carefully selected with respect to the endocrine and neuroradiological phenotype. There is considerable phenotypic variability in families with the same mutation, indicating the role of other genetic or environmental factors on phenotypic expression. Finally, the pituitary enlargement that is observed in patients with PROP1 mutations can wax and wane in size before eventual involution.
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Published date: July 2005
Organisations:
Southampton Education School, Mathematics, Science & Health Education
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Local EPrints ID: 340432
URI: http://eprints.soton.ac.uk/id/eprint/340432
PURE UUID: e9e8228c-7579-4a3c-835a-7658c99e1c22
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Date deposited: 26 Mar 2015 09:11
Last modified: 15 Mar 2024 03:24
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Contributors
Author:
James P.G. Turton
Author:
Ameeta Mehta
Author:
Jamal Raza
Author:
Anatoly Tiulpakov
Author:
Joseph Cassar
Author:
Kling Chong
Author:
Paul Q. Thomas
Author:
Marumudi Eunice
Author:
Ariachery C. Ammini
Author:
Pierre M. Bouloux
Author:
Jerzy Starzyk
Author:
Peter C. Hindmarsh
Author:
Mehul T. Dattani
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