<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.

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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
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article

PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease

Lucas Bouys, Karine Perlemoine, Jerome Yves Bertherat, Amina Attia et al.
1 citations
European Journal of Endocrinology
Cardiac tumors and thrombi
1.39
article

PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease

Lucas Bouys, Karine Perlemoine, Jerome Yves Bertherat, Amina Attia, Florian Violon, Nicolas Chevalier, Annabel Berthon, Éric Pasmant, Stéphanie Espiard, Gérald Raverot, Marie‐Christine Vantyghem, Anne Jouinot, Louis Thomeret, Mathilde Sibony, Patricia Vaduva, Maria Candida Barisson Villares Fragoso, Bruno Ragazzon, Albain Chansavang, Djihad Hadjadj, Michel Polak, Aliny Weber Kuhn
article en
1 citations

Abstract

PRKACAdup causes PPNAD but no other forms of BNAD, so these should be sought in the absence of pathogenic PRKAR1A variants.

European Journal of EndocrinologyVol. 193(6)
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)
Openalex Percentile: Top 13%
Cardiac tumors and thrombi
1.39
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