Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors

Author:

Matyakhina Ludmila1,Bei Thalia A.1,McWhinney Sarah R.2,Pasini Barbara3,Cameron Silke4,Gunawan Bastian4,Stergiopoulos Sotirios G.1,Boikos Sosipatros1,Muchow Michael1,Dutra Amalia51,Pak Evgenia51,Campo Elias6,Cid Maria C.6,Gomez Fulgencio7,Gaillard Rolf C.7,Assie Guillaume89,Füzesi Laszlo4,Baysal Bora E.10,Eng Charis92,Carney J. Aidan11,Stratakis Constantine A.1

Affiliation:

1. Section on Endocrinology and Genetics (L.M., T.A.B., S.G.S., S.B., M.M., A.D., E.P., C.A.S.), National Institutes of Health, Bethesda, Maryland 20892

2. Department of Molecular Genetics (S.R.M., C.E.), The Ohio State University, Columbus, Ohio 43210

3. Department of Genetics, Biology and Biochemistry (B.P.), University of Turin, 10129 Turin, Italy

4. Departments of Gastroenterology and Gastroenteropathology (S.C., B.G., L.F.), University Clinic of the Georg August Göttingen University, Göttingen 37099, Germany

5. Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Cytogenetic and Microscopy Core, National Human Genome Research Institute (A.D., E.P.), National Institutes of Health, Bethesda, Maryland 20892

6. Departments of Pathology and Hematopathology Unit and Internal Medicine (E.C., M.C.C.), Hospital Clinic, University of Barcelona, Villarroel, 17008036 Barcelona, Spain

7. Departments of Service d’ Endocrinologie, Diabétologie et du Métabolisme (F.G., R.C.G.), Centre Hospitalier Universitaire Vaudois-CHUV, CH-1011 Lausanne, Switzerland

8. Institut National de la Santé et de la Recherche Médicale U567 (G.A.), Institut Cochin, Département d’Endocrinologie, F-75014 Paris, France

9. Departments of Genomic Medicine Institute, Lerner Research Institute, and Taussig Cancer Center, Cleveland Clinic Foundation (G.A., C.E.), Cleveland, Ohio 44195

10. Department of Obstetrics, Gynecology, and Reproductive Sciences (B.E.B.), The University of Pittsburgh School of Medicine, Magee Women’s Research Institute, Pittsburgh, Pennsylvania 15213

11. Department of Laboratory Medicine and Pathology (Emeritus member) (J.A.C.), Mayo Clinic and Foundation, Rochester, Minnesota 55905

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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