Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl-Reference-Cited by-同舟云学术

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Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl

Published:2015-08-19 Issue:1 Volume:175 Page:137-141
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Imamura Hideaki,Muroya Koji,Tanaka Etsuko,Konomoto Takao,Moritake Hiroshi,Sato Takeshi,Kimura Noriko,Takekoshi Kazuhiro,Nunoi Hiroyuki

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-015-2614-5.pdf

Reference21 articles.

1. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69:49–54

2. Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE (2006) Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet 7:1

3. Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP, PGL.NET network (2009) The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 94:2817–2827

4. DeLellis R, Lloyd R, Heitz P, Eng C (2004) Pathology and genetics of tumours of endocrine organs

5. Fishbein L, Nathanson KL (2012) Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 205:1–11

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1. The evolutionary impact of childhood cancer on the human gene pool;Nature Communications;2024-02-29

2. Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study;The Journal of Clinical Endocrinology & Metabolism;2022-01-17

3. International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers;Nature Reviews Endocrinology;2021-05-21

4. Para-Gangliomas;Pediatric Vascular Neurosurgery;2021

5. Prevalence of succinate dehydrogenase deficiency in paragangliomas and phaeochromocytomas at a tertiary hospital in Cape Town: a retrospective review;Journal of Endocrinology, Metabolism and Diabetes of South Africa;2020-11-26

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