ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome

Author

ASSIE, Guillaume^{1 2 3} ; LIBE, Rossella^{1 3} ; RODRIGUEZ, Stéphanie¹ ; PERLEMOINE, Karine^{1 2} ; RENE-CORAIL, Fernande^{1 2} ; LETOURNEUR, Franck¹ ; TRABULSI, Bilal⁶ ; POUSSIER, Alix⁷ ; CHABBERT-BUFFET, Nathalie⁵ ; BORSON-CHAZOT, Françoise⁸ ; GROUSSIN, Lionel^{1 2 3} ; BERTAGNA, Xavier^{1 2 3} ; ESPIARD, Stéphanie^{1 2} ; STRATAKIS, Constantine A⁹ ; RAGAZZON, Bruno¹ ; BERTHERAT, Jérôme^{1 2 3} ; RIZK-RABIN, Marthe¹ ; GUIMIER, Anne^{1 2} ; LUSCAP, Windy¹ ; BARREAU, Olivia^{1 2 3} ; LEFEVRE, Lucile^{1 2} ; SIBONY, Mathilde^{2 4} ; GUIGNAT, Laurence³
[1] INSERM Unité 1016, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut Cochin, Paris, France
[2] Faculté de Médecine Paris Descartes, Université Paris Descartes, Sorbonne Paris Cité, Paris, France
[3] Department of Endocrinology, Referral Center for Rare Adrenal Diseases, Paris, France
[4] Department of Pathology, Paris, France
[5] Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, and Unit of Endocrinology, Department of Obstetrics and Gynecology, Hôpital Tenon, Paris, France
[6] Unit of Endocrinology, Centre Hospitalier du Centre Bretagne, Site de Kério, Noyal-Pontivy, France
[7] Unit of Endocrinology, Hôtel Dieu du Creusot, Le Creusot, France
[8] Department of Endocrinology Lyon-Est, Groupement Hospitalier Est, Bron, France
[9] Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics and the Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States

Source

The New England journal of medicine. 2013, Vol 369, Num 22, pp 2105-2114, 10 p ; ref : 29 ref

CODEN

NEJMAG

ISSN

0028-4793

Scientific domain

General medicine general surgery

Publisher

Massachusetts Medical Society, Waltham, MA

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Hyperplasie Mutation Médecine Surrénale Syndrome de Cushing Endocrinopathie Hypercorticisme Pathologie corticosurrénale Pathologie des surrénales

Keyword (en)

Hyperplasia Mutation Medicine Adrenal glands Cushing syndrome Endocrinopathy Hyperadrenocorticism Adrenal cortex diseases Adrenal gland diseases

Keyword (es)

Hiperplasia Mutación Medicina Suprarrenal Cushing síndrome Endocrinopatía Hiperadrenocorticismo Corticosuprarrenal patología Suprarrenal patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21B Adrenals. Adrenal axis. Renin-angiotensin system (diseases) / 002B21B01 Non tumoral diseases. Target tissue resistance. Benign neoplasms

Discipline

Endocrinopathies Generalities in medical sciences

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

27917703

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS