A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation-Reference-Cited by-同舟云学术

A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation

Published:2019-05-02 Issue:8 Volume:104 Page:3362-3366
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Cardot-Bauters Catherine¹,Carnaille Bruno²³,Aubert Sébastien²⁴,Crépin Michel⁵,Boury Samuel⁶,Burnichon Nelly⁷⁸⁹,Pigny Pascal²⁵^ORCID

Affiliation:

1. Service d’Endocrinologie, Hôpital Claude Huriez, Centre Hospitalier Universitaire de Lille Cedex, Lille Cedex, France

2. Faculté de Médecine, Université de Lille, Lille Cedex, France

3. Service de Chirurgie Endocrine, Hôpital Claude Huriez, Centre Hospitalier Universitaire de Lille Cedex, Lille Cedex, France

4. Centre de Biologie Pathologie, Institut de Pathologie, Centre Hospitalier Universitaire de Lille Cedex, Lille Cedex, France

5. Laboratoire de Biochimie Hormonologie Métabolisme Nutrition Oncologie, Centre de Biologie Pathologie, Centre Hospitalier Universitaire de Lille Cedex, Lille Cedex, France

6. Service de Radiologie, Hôpital Claude Huriez, Centre Hospitalier Universitaire de Lille Cedex, Lille Cedex, France

7. Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France

8. Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche, Paris Cardiovascular Research Center, Paris, France

9. Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

Funder

A.R.E.M.

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/advance-article-pdf/doi/10.1210/jc.2019-00175/28546965/jc.2019-00175.pdf

Reference13 articles.

1. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma;Astuti;Am J Hum Genet,2001

2. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas;Gimenez-Roqueplo;Cancer Res,2003

3. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma [published online ahead of print 15 March 2019];Ben Aim;J Med Genet

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

5. High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations;Lima;J Clin Endocrinol Metab,2007

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