Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618202
Title:
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
Authors:
Arya, V.B.; Guemes, M.; Nessa, A.; Alam, S.; Shah, P.; Gilbert, C.; Senniappan, S.; Flanagan, Sarah; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hussain, K.
Abstract:
Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic maternal allele loss) can give rise to either phenotype. However, the relative proportion of these two phenotypes in a large cohort of CHI patients due to paternally inherited heterozygous ABCC8/KCNJ11 mutations has not been reported.
Citation:
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 2014, 171 (6):685-95 Eur. J. Endocrinol.
Publisher:
European Society of Endocrinology
Journal:
European journal of endocrinology / European Federation of Endocrine Societies
Issue Date:
Dec-2014
URI:
http://hdl.handle.net/11287/618202
DOI:
10.1530/EJE-14-0353
PubMed ID:
25201519
Additional Links:
http://www.eje-online.org/cgi/pmidlookup?view=long&pmid=25201519
Type:
Journal Article
Language:
en
ISSN:
1479-683X
Appears in Collections:
2014 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorArya, V.B.en
dc.contributor.authorGuemes, M.en
dc.contributor.authorNessa, A.en
dc.contributor.authorAlam, S.en
dc.contributor.authorShah, P.en
dc.contributor.authorGilbert, C.en
dc.contributor.authorSenniappan, S.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEllard, Sianen
dc.contributor.authorHussain, K.en
dc.date.accessioned2016-08-10T10:34:16Z-
dc.date.available2016-08-10T10:34:16Z-
dc.date.issued2014-12-
dc.identifier.citationClinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 2014, 171 (6):685-95 Eur. J. Endocrinol.en
dc.identifier.issn1479-683X-
dc.identifier.pmid25201519-
dc.identifier.doi10.1530/EJE-14-0353-
dc.identifier.urihttp://hdl.handle.net/11287/618202-
dc.description.abstractCongenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic maternal allele loss) can give rise to either phenotype. However, the relative proportion of these two phenotypes in a large cohort of CHI patients due to paternally inherited heterozygous ABCC8/KCNJ11 mutations has not been reported.en
dc.language.isoenen
dc.publisherEuropean Society of Endocrinologyen
dc.relation.urlhttp://www.eje-online.org/cgi/pmidlookup?view=long&pmid=25201519en
dc.rightsArchived with thanks to European journal of endocrinology / European Federation of Endocrine Societiesen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleClinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.en
dc.typeJournal Articleen
dc.identifier.journalEuropean journal of endocrinology / European Federation of Endocrine Societiesen
dc.type.versionPublisheden

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.