Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620140
Title:
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
Authors:
Yau, D.; De Franco, E.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Blumenkrantz, M.; Mitchell, J. J.
Abstract:
Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism.
Citation:
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 2017, 12 (1):1 Diagn Pathol
Publisher:
BioMed Central
Journal:
Diagnostic Pathology
Issue Date:
3-Jan-2017
URI:
http://hdl.handle.net/11287/620140
DOI:
10.1186/s13000-016-0592-1
PubMed ID:
28049534
Additional Links:
https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-016-0592-1
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:
1746-1596
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorYau, D.en
dc.contributor.authorDe Franco, E.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorBlumenkrantz, M.en
dc.contributor.authorMitchell, J. J.en
dc.date.accessioned2017-01-05T15:57:36Z-
dc.date.available2017-01-05T15:57:36Z-
dc.date.issued2017-01-03-
dc.identifier.citationCase report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 2017, 12 (1):1 Diagn Patholen
dc.identifier.issn1746-1596-
dc.identifier.pmid28049534-
dc.identifier.doi10.1186/s13000-016-0592-1-
dc.identifier.urihttp://hdl.handle.net/11287/620140-
dc.description.abstractHaploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttps://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-016-0592-1en
dc.rightsArchived with thanks to Diagnostic Pathology. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleCase report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.en
dc.typeJournal Articleen
dc.identifier.journalDiagnostic Pathologyen
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.versionPublisheden

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