Couture, C; Saveanu, A; Barlier, A; Carel, J C; Fassnacht, M; Flück, C E; Houang, M; Maes, M; Phan-Hug, F; Enjalbert, A; Drouin, J; Brue, T; Vallette, S (2012). Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. Journal of clinical endocrinology and metabolism, 97(3), E486-95. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-1659
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Congenital isolated ACTH deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones. This condition was poorly defined before we identified TPIT, a T-box transcription factor with a specific role in differentiation of the corticotroph lineage in mice and humans, as its principal molecular cause.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Flück Pandey, Christa Emma |
ISSN: |
0021-972X |
ISBN: |
0021-972X |
Publisher: |
Endocrine Society |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:24 |
Last Modified: |
12 Oct 2023 11:42 |
Publisher DOI: |
10.1210/jc.2011-1659 |
PubMed ID: |
22170728 |
Web of Science ID: |
000301229600023 |
Additional Information: |
Couture, C. Saveanu, A. Barlier, A. Carel, J. C. Fassnacht, M. Flueck, C. E. Houang, M. Maes, M. Phan-Hug, F. Enjalbert, A. Drouin, J. Brue, T. Vallette, S. |
BORIS DOI: |
10.48350/8305 |
URI: |
https://boris.unibe.ch/id/eprint/8305 (FactScience: 213824) |
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