Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

2.50
Hdl Handle:
http://hdl.handle.net/11287/615346
Title:
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Authors:
Alves, M. M.; Halim, D.; Maroofian, Reza; de Graaf, B. M.; Rooman, R.; van der Werf, C. S.; Van de Vijver, E.; Mehrjardi, M. Y.; Aflatoonian, M.; Chioza, Barry A.; Baple, E. L.; Dehghani, M.; Crosby, Andrew H.; Hofstra, R.M.
Abstract:
Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a small number of patients have been reported to date with variants in this gene. In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.European Journal of Human Genetics advance online publication, 29 June 2016; doi:10.1038/ejhg.2016.58.
Citation:
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 2016 Nov;24(11):1627-1629: Eur. J. Hum. Genet.
Publisher:
Nature
Journal:
European journal of human genetics : EJHG
Issue Date:
29-Jun-2016
URI:
http://hdl.handle.net/11287/615346
DOI:
10.1038/ejhg.2016.58
PubMed ID:
27352967
Additional Links:
http://dx.doi.org/10.1038/ejhg.2016.58
Type:
Journal Article
Language:
en
ISSN:
1476-5438
Appears in Collections:
Honorary contracts publications; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorAlves, M. M.en
dc.contributor.authorHalim, D.en
dc.contributor.authorMaroofian, Rezaen
dc.contributor.authorde Graaf, B. M.en
dc.contributor.authorRooman, R.en
dc.contributor.authorvan der Werf, C. S.en
dc.contributor.authorVan de Vijver, E.en
dc.contributor.authorMehrjardi, M. Y.en
dc.contributor.authorAflatoonian, M.en
dc.contributor.authorChioza, Barry A.en
dc.contributor.authorBaple, E. L.en
dc.contributor.authorDehghani, M.en
dc.contributor.authorCrosby, Andrew H.en
dc.contributor.authorHofstra, R.M.en
dc.date.accessioned2016-07-01T15:25:43Z-
dc.date.available2016-07-01T15:25:43Z-
dc.date.issued2016-06-29-
dc.identifier.citationGenetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 2016 Nov;24(11):1627-1629: Eur. J. Hum. Genet.en
dc.identifier.issn1476-5438-
dc.identifier.pmid27352967-
dc.identifier.doi10.1038/ejhg.2016.58-
dc.identifier.urihttp://hdl.handle.net/11287/615346-
dc.description.abstractCongenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a small number of patients have been reported to date with variants in this gene. In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.European Journal of Human Genetics advance online publication, 29 June 2016; doi:10.1038/ejhg.2016.58.en
dc.languageENG-
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/ejhg.2016.58en
dc.rightsArchived with thanks to European journal of human genetics : EJHGen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleGenetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.en
dc.typeJournal Articleen
dc.identifier.journalEuropean journal of human genetics : EJHGen
dc.type.versionIn press (epub ahead of print)en

Related articles on PubMed

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