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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

dc.contributor.authorLango Allen, H
dc.contributor.authorCaswell, Richard
dc.contributor.authorXie, W
dc.contributor.authorXu, X
dc.contributor.authorWragg, C
dc.contributor.authorTurnpenny, Peter D.
dc.contributor.authorTurner, CL
dc.contributor.authorWeedon, Michael N.
dc.contributor.authorEllard, Sian
dc.date.accessioned2014-02-18T12:42:02Z
dc.date.issued2014-01-23
dc.description.abstractSplit-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype.en_GB
dc.description.sponsorshipWellcome Trusten_GB
dc.identifier.citationJournal of Medical Genetics, 2014en_GB
dc.identifier.doi10.1136/jmedgenet-2013-102142
dc.identifier.otherjmedgenet-2013-102142
dc.identifier.urihttp://hdl.handle.net/10871/14548
dc.language.isoenen_GB
dc.publisherBMJ Publishing Groupen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/24459211en_GB
dc.rightsThis is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/ by/3.0/en_GB
dc.subjectChromosomalen_GB
dc.subjectClinical Geneticsen_GB
dc.subjectCopy-Numberen_GB
dc.subjectGeneticsen_GB
dc.titleNext generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humansen_GB
dc.typeArticleen_GB
dc.date.available2014-02-18T12:42:02Z
dc.identifier.issn0022-2593
dc.descriptionThis is a freely-available open access publication. Please cite the published version which is available via the DOI link in this recorden_GB
dc.identifier.journalJournal of Medical Geneticsen_GB


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