From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
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| Title: | From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition. |
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| Authors: | Piazzola C; Department of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France., Le Collen L; Department of Biochemistry, Federative Institute of Biology, University Hospital Center of Toulouse, Toulouse, 31059, France.; Department of Endocrinology Diabetology, University of Reims, Reims, France.; Department of Clinical Genetics, University of Reims, Reims, France., Charnay T; Aix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France., Decoudier B; Department of Endocrinology Diabetology, University of Reims, Reims, France., Albarel F; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Endocrinology Departement, Centre de Reference Maladie Rare HYPO, Marseille, France., Macagno N; Aix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of pathology, Marseille, France., Castinetti F; Department of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France., Barlier A; Aix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France., Delemer B; Department of Endocrinology Diabetology, University of Reims, Reims, France., Romanet P; Aix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France. pauline.romanet@univ-amu.fr.; GCS AURAGEN, Lyon, 69003, France. pauline.romanet@univ-amu.fr., Auragen Consortium; GCS AURAGEN, Lyon, 69003, France. |
| Source: | Pituitary [Pituitary] 2025 Dec 09; Vol. 29 (1), pp. 15. Date of Electronic Publication: 2025 Dec 09. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Kluwer Academic Publishers Country of Publication: United States NLM ID: 9814578 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7403 (Electronic) Linking ISSN: 1386341X NLM ISO Abbreviation: Pituitary Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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