HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
Mutations within HESX1 are a rare cause of SOD and hypopituitarism. However, the large number of familial patients with SOD in whom no mutations were identified is suggestive of an etiological role for other genetic factors. Furthermore, we have found that within our cohort SOD is associated with a reduced maternal age compared with isolated defects of the hypothalamopituitary axis
691-697
McNay, David E.G.
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Turton, James P.
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Kelberman, Daniel
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Woods-Townsend, Kathryn
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Brauner, Raja
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Papadimitriou, Anastasios
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Keller, Eberhard
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Keller, Alexandra
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Haufs, Nele
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Krude, Heiko
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Shalet, Stephen M.
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Dattani, Mehul T.
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1 February 2007
McNay, David E.G.
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Turton, James P.
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Kelberman, Daniel
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Woods-Townsend, Kathryn
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
Brauner, Raja
87bab190-77f1-4454-9691-34d7f4da994e
Papadimitriou, Anastasios
64f89c8e-2df5-4773-9c7c-ab87d95021ce
Keller, Eberhard
732b8362-0c04-4710-b022-720deea18fce
Keller, Alexandra
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Haufs, Nele
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Krude, Heiko
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Shalet, Stephen M.
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Dattani, Mehul T.
536002c2-9284-4800-95db-65375bb0afbd
McNay, David E.G., Turton, James P., Kelberman, Daniel, Woods-Townsend, Kathryn, Brauner, Raja, Papadimitriou, Anastasios, Keller, Eberhard, Keller, Alexandra, Haufs, Nele, Krude, Heiko, Shalet, Stephen M. and Dattani, Mehul T.
(2007)
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
Journal of Clinical Endocrinology & Metabolism, 92 (2), .
(doi:10.1210/jc.2006-1609).
(PMID:17148560)
Abstract
Mutations within HESX1 are a rare cause of SOD and hypopituitarism. However, the large number of familial patients with SOD in whom no mutations were identified is suggestive of an etiological role for other genetic factors. Furthermore, we have found that within our cohort SOD is associated with a reduced maternal age compared with isolated defects of the hypothalamopituitary axis
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Published date: 1 February 2007
Organisations:
Southampton Education School, Mathematics, Science & Health Education
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Local EPrints ID: 340431
URI: http://eprints.soton.ac.uk/id/eprint/340431
ISSN: 0021-972X
PURE UUID: de96c6a0-66ce-423c-8888-203e4904e539
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Date deposited: 26 Mar 2015 09:00
Last modified: 15 Mar 2024 03:24
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Author:
David E.G. McNay
Author:
James P. Turton
Author:
Daniel Kelberman
Author:
Raja Brauner
Author:
Anastasios Papadimitriou
Author:
Eberhard Keller
Author:
Alexandra Keller
Author:
Nele Haufs
Author:
Heiko Krude
Author:
Stephen M. Shalet
Author:
Mehul T. Dattani
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