Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620752
Title:
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.
Authors:
Yap, K. L. [et al]; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.
Citation:
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. 2018 Genet. Med.
Publisher:
Nature
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Issue Date:
15-Jun-2018
URI:
http://hdl.handle.net/11287/620752
DOI:
10.1038/s41436-018-0013-9
PubMed ID:
29907798
Additional Links:
http://dx.doi.org/10.1038/s41436-018-0013-9
Type:
Journal Article
Language:
en
ISSN:
1530-0366
Appears in Collections:
Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorYap, K. L. [et al]en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2018-07-10T11:49:07Z-
dc.date.available2018-07-10T11:49:07Z-
dc.date.issued2018-06-15-
dc.identifier.citationCongenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. 2018 Genet. Med.en
dc.identifier.issn1530-0366-
dc.identifier.pmid29907798-
dc.identifier.doi10.1038/s41436-018-0013-9-
dc.identifier.urihttp://hdl.handle.net/11287/620752-
dc.description.abstractDescribe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/s41436-018-0013-9en
dc.rightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleCongenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.en
dc.typeJournal Articleen
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen
dc.type.versionIn press (epub ahead of print)en

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