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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

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
0021-972X
691-697
McNay, David E.G.
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Turton, James P.
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Kelberman, Daniel
fbeecab9-c357-4537-9460-d35170d241eb
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
91c21d9b-a5d1-494d-8a7b-a9257dc610e4
Haufs, Nele
70ed0bc4-96bc-4dcd-8586-f370f0bd7b28
Krude, Heiko
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Shalet, Stephen M.
4cd10320-40d2-48ca-84cb-26e356521cd2
Dattani, Mehul T.
536002c2-9284-4800-95db-65375bb0afbd
McNay, David E.G.
0b4fc3cf-4e7e-4987-8217-d6283e108981
Turton, James P.
1d527545-3e61-4ef8-955f-af7053c91648
Kelberman, Daniel
fbeecab9-c357-4537-9460-d35170d241eb
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
91c21d9b-a5d1-494d-8a7b-a9257dc610e4
Haufs, Nele
70ed0bc4-96bc-4dcd-8586-f370f0bd7b28
Krude, Heiko
fd50fdbf-e02e-4c69-844a-f1c07769dacd
Shalet, Stephen M.
4cd10320-40d2-48ca-84cb-26e356521cd2
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), 691-697. (doi:10.1210/jc.2006-1609). (PMID:17148560)

Record type: Article

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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More information

Published date: 1 February 2007
Organisations: Southampton Education School, Mathematics, Science & Health Education

Identifiers

Local EPrints ID: 340431
URI: http://eprints.soton.ac.uk/id/eprint/340431
ISSN: 0021-972X
PURE UUID: de96c6a0-66ce-423c-8888-203e4904e539
ORCID for Kathryn Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 26 Mar 2015 09:00
Last modified: 10 Dec 2019 01:43

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