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

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.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.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.doi10.1530/EJE-14-0353
dc.identifier.issn1479-683X
dc.identifier.journalEuropean journal of endocrinology / European Federation of Endocrine Societiesen
dc.identifier.pmid25201519
dc.identifier.urihttp://hdl.handle.net/11287/618202
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.type.versionPublisheden
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