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

dc.contributor.authorAlves, M. M.en
dc.contributor.authorHalim, D.en
dc.contributor.authorMaroofian, R.en
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.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.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.doi10.1038/ejhg.2016.58
dc.identifier.issn1476-5438
dc.identifier.journalEuropean journal of human genetics : EJHGen
dc.identifier.pmid27352967
dc.identifier.urihttp://hdl.handle.net/11287/615346
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.type.versionIn press (epub ahead of print)en
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