Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations

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

Full text not available from this repository. (Request a copy)

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, Christa

ISSN:

0021-972X

ISBN:

0021-972X

Publisher:

Endocrine Society

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:24

Last Modified:

17 Mar 2015 21:03

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.

URI:

https://boris.unibe.ch/id/eprint/8305 (FactScience: 213824)

Actions (login required)

Edit item Edit item
Provide Feedback