The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.
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| Title: | The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update. |
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| Authors: | Bouys L; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France., Vaczlavik A; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France., Cavalcante IP; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France., Violon F; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France., Jouinot A; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France., Berthon A; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France., Vaduva P; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Endocrinology, Diabetology and Nutrition, CHU Rennes, Rennes, France., Espiard S; Department of Endocrinology, Diabetology, Metabolism and Nutrition, CHU Lille, Inserm U1190, Lille, France., Perlemoine K; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France., Kamenicky P; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Department of Endocrinology and Reproduction, Reference Center for Rare Pituitary Diseases, Hôpital Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin-Bicêtre, France., Vantyghem MC; Department of Endocrinology, Diabetology, Metabolism and Nutrition, CHU Lille, Inserm U1190, Lille, France., Tabarin A; Department of Endocrinology, Diabetology and Nutrition, Hôpital Haut-Lévêque, CHU Bordeaux, Bordeaux, France., Raverot G; Department of Endocrinology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Ronchi CL; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK.; Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham Health Partners, Birmingham, UK., Dischinger U; Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital of Würzburg, Würzburg, Germany., Reincke M; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany., Fragoso MC; Department of Endocrinology, Adrenal Unit, University of Sao Paulo, Sao Paulo, Brazil., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.; Research Institute, ELPEN, Pikermi, Athens, Greece.; Human Genetics and Precision Medicine, IMBB, FORTH, Heraklion, Crete, Greece., Chansavang A; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Genomic Medicine of Tumors and Cancers, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, Paris, France., Pasmant E; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.; Department of Genomic Medicine of Tumors and Cancers, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, Paris, France., Ragazzon B; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France., Bertherat J; Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France. jerome.bertherat@aphp.fr.; Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France. jerome.bertherat@aphp.fr. |
| Corporate Authors: | COMETE and ENSAT Networks |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Feb 05; Vol. 20 (1), pp. 51. Date of Electronic Publication: 2025 Feb 05. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-025-03554-1 |
