Three cases of Wolfram syndrome with different clinical aspects.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618197
Title:
Three cases of Wolfram syndrome with different clinical aspects.
Authors:
Çamtosun, E.; Şıklar, Z.; Kocaay, P.; Ceylaner, S.; Flanagan, Sarah; Ellard, Sian ( 0000-0002-7620-5526 ) ; Berberoğlu, M.
Abstract:
Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.
Citation:
Three cases of Wolfram syndrome with different clinical aspects. 2015, 28 (3-4):433-8 J. Pediatr. Endocrinol. Metab.
Publisher:
De Gruyter
Journal:
Journal of pediatric endocrinology & metabolism : JPEM
Issue Date:
Mar-2015
URI:
http://hdl.handle.net/11287/618197
DOI:
10.1515/jpem-2014-0139
PubMed ID:
25210753
Additional Links:
http://www.degruyter.com/doi/10.1515/jpem-2014-0139
Type:
Journal Article; Case Report
Language:
en
ISSN:
2191-0251
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorÇamtosun, E.en
dc.contributor.authorŞıklar, Z.en
dc.contributor.authorKocaay, P.en
dc.contributor.authorCeylaner, S.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEllard, Sianen
dc.contributor.authorBerberoğlu, M.en
dc.date.accessioned2016-08-10T10:15:48Z-
dc.date.available2016-08-10T10:15:48Z-
dc.date.issued2015-03-
dc.identifier.citationThree cases of Wolfram syndrome with different clinical aspects. 2015, 28 (3-4):433-8 J. Pediatr. Endocrinol. Metab.en
dc.identifier.issn2191-0251-
dc.identifier.pmid25210753-
dc.identifier.doi10.1515/jpem-2014-0139-
dc.identifier.urihttp://hdl.handle.net/11287/618197-
dc.description.abstractWolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.en
dc.language.isoenen
dc.publisherDe Gruyteren
dc.relation.urlhttp://www.degruyter.com/doi/10.1515/jpem-2014-0139en
dc.rightsArchived with thanks to Journal of pediatric endocrinology & metabolism : JPEMen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinologyen
dc.titleThree cases of Wolfram syndrome with different clinical aspects.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.identifier.journalJournal of pediatric endocrinology & metabolism : JPEMen
dc.type.versionPublisheden

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