<i>PRKACA</i> constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease
PRKACAdup causes PPNAD but no other forms of BNAD, so these should be sought in the absence of pathogenic PRKAR1A variants.
Authors
- Lucas Bouys (ORCID: https://orcid.org/0000-0003-1743-1598)
- Karine Perlemoine
- Jerome Yves Bertherat (ORCID: https://orcid.org/0000-0003-2551-3008)
- Amina Attia (ORCID: https://orcid.org/0009-0001-0570-749X)
- Florian Violon (ORCID: https://orcid.org/0000-0002-7990-3434)
- Nicolas Chevalier (ORCID: https://orcid.org/0000-0002-7899-8822)
- Annabel Berthon (ORCID: https://orcid.org/0000-0002-5576-9525)
- Éric Pasmant (ORCID: https://orcid.org/0000-0002-1881-8762)
- Stéphanie Espiard (ORCID: https://orcid.org/0000-0002-9584-4294)
- Gérald Raverot (ORCID: https://orcid.org/0000-0002-9517-338X)
- Marie‐Christine Vantyghem (ORCID: https://orcid.org/0000-0002-9369-0463)
- Anne Jouinot
- Louis Thomeret (ORCID: https://orcid.org/0009-0003-6308-3309)
- Mathilde Sibony (ORCID: https://orcid.org/0000-0002-1282-8732)
- Patricia Vaduva (ORCID: https://orcid.org/0000-0003-3195-1629)
- Maria Candida Barisson Villares Fragoso
- Bruno Ragazzon (ORCID: https://orcid.org/0000-0001-9476-4973)
- Albain Chansavang (ORCID: https://orcid.org/0000-0002-9835-2156)
- Djihad Hadjadj (ORCID: https://orcid.org/0000-0002-6916-5722)
- Michel Polak
- Aliny Weber Kuhn
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Universidade de São Paulo (BR)
- Université Paris Cité (FR)
- Université de Lille (FR)
- Centre Hospitalier Universitaire de Nice (FR)
- Institut Necker Enfants Malades (FR)
- Sorbonne Paris Cité (FR)
- Hôpital Cochin (FR)
- Hospices Civils de Lyon (FR)
- Epigénétique et Destin Cellulaire (FR)
- Institut Cochin (FR)
- Center for Genomic Science (IT)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1093/ejendo/lvaf255
- Citations
- 1
- Primary Topic
- Cardiac tumors and thrombi
- Type
- article
- Field-Weighted Citation Impact
- 1.39