Glypican 1 gene: good candidate for brachydactyly type E

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dc.contributor.authorSyrrou, M.en
dc.contributor.authorKeymolen, K.en
dc.contributor.authorDevriendt, K.en
dc.contributor.authorHolvoet, M.en
dc.contributor.authorThoelen, R.en
dc.contributor.authorVerhofstadt, K.en
dc.contributor.authorFryns, J. P.en
dc.date.accessioned2015-11-24T19:14:36Z
dc.date.available2015-11-24T19:14:36Z
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21348
dc.rightsDefault Licence-
dc.subjectChromosome Deletionen
dc.subjectChromosomes, Human, Pair 2/geneticsen
dc.subjectFamily Healthen
dc.subjectFemaleen
dc.subjectFingers/*abnormalitiesen
dc.subjectGenetic Predisposition to Disease/*geneticsen
dc.subjectHand Deformities/complications/geneticsen
dc.subjectHeparan Sulfate Proteoglycans/*geneticsen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectIntellectual Disability/complicationsen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.titleGlypican 1 gene: good candidate for brachydactyly type Een
heal.abstractIn this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11920836-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/ajmg.10266/asset/10266_ftp.pdf?v=1&t=h0dilpfj&s=742e09964ac0e613fa28aba98a016169a996fe8a-
heal.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2002-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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