Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesSDHB,SDHCandSDHD.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620621
Title:
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesSDHB,SDHCandSDHD.
Authors:
Andrews, K. A. [et al]; Brewer, Carole
Abstract:
Germline pathogenic variants inSDHB/SDHC/SDHDare the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype-phenotype correlations in a large cohort ofSDHB/SDHC/SDHDmutation carriers.
Citation:
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesSDHB,SDHCandSDHD. 2018 J. Med. Genet.
Publisher:
BMJ
Journal:
Journal of medical genetics
Issue Date:
31-Jan-2018
URI:
http://hdl.handle.net/11287/620621
DOI:
10.1136/jmedgenet-2017-105127
PubMed ID:
29386252
Additional Links:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29386252
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1468-6244
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorAndrews, K. A. [et al]en
dc.contributor.authorBrewer, Caroleen
dc.date.accessioned2018-03-02T14:52:16Z-
dc.date.available2018-03-02T14:52:16Z-
dc.date.issued2018-01-31-
dc.identifier.citationTumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesSDHB,SDHCandSDHD. 2018 J. Med. Genet.en
dc.identifier.issn1468-6244-
dc.identifier.pmid29386252-
dc.identifier.doi10.1136/jmedgenet-2017-105127-
dc.identifier.urihttp://hdl.handle.net/11287/620621-
dc.description.abstractGermline pathogenic variants inSDHB/SDHC/SDHDare the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype-phenotype correlations in a large cohort ofSDHB/SDHC/SDHDmutation carriers.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29386252en
dc.rightsArchived with thanks to Journal of medical genetics. Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleTumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesSDHB,SDHCandSDHD.en
dc.typeJournal Articleen
dc.identifier.journalJournal of medical geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionIn press (epub ahead of print)en

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