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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.
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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  Data: From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
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  Data: <searchLink fieldCode="AU" term="%22Piazzola+C%22">Piazzola C</searchLink>; Department of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Le+Collen+L%22">Le Collen L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Charnay+T%22">Charnay T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Decoudier+B%22">Decoudier B</searchLink>; Department of Endocrinology Diabetology, University of Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Albarel+F%22">Albarel F</searchLink>; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Endocrinology Departement, Centre de Reference Maladie Rare HYPO, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Macagno+N%22">Macagno N</searchLink>; Aix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of pathology, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Castinetti+F%22">Castinetti F</searchLink>; Department of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Barlier+A%22">Barlier A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Delemer+B%22">Delemer B</searchLink>; Department of Endocrinology Diabetology, University of Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Romanet+P%22">Romanet P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Auragen+Consortium%22">Auragen Consortium</searchLink>; GCS AURAGEN, Lyon, 69003, France.
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  Data: <searchLink fieldCode="JN" term="%229814578%22">Pituitary</searchLink> [Pituitary] 2025 Dec 09; Vol. 29 (1), pp. 15. <i>Date of Electronic Publication: </i>2025 Dec 09.
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              Text: 2025 Dec 09
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