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Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.gene.2012.02.043
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dc.titleA submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome
dc.contributor.authorLai, A.H.M.
dc.contributor.authorBrett, M.S.
dc.contributor.authorChin, W.-H.
dc.contributor.authorLim, E.C.P.
dc.contributor.authorNg, J.S.H.
dc.contributor.authorTan, E.-C.
dc.date.accessioned2014-11-25T09:43:40Z
dc.date.available2014-11-25T09:43:40Z
dc.date.issued2012-05-10
dc.identifier.citationLai, A.H.M., Brett, M.S., Chin, W.-H., Lim, E.C.P., Ng, J.S.H., Tan, E.-C. (2012-05-10). A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. Gene 499 (1) : 182-185. ScholarBank@NUS Repository. https://doi.org/10.1016/j.gene.2012.02.043
dc.identifier.issn03781119
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/108242
dc.description.abstractWe report a girl with Rubinstein-Taybi syndrome (RSTS) who was found to have copy number loss on 16p13.3 by array-CGH. She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad thumbs and big toes, postaxial polydactyly of the right foot and constipation from birth. We report the junction sequence across the breakpoint region for a microdeletion in RSTS. The sequencing results also showed that the deletion was 81.4. kb involving three genes . DNASE 1, . TRAP 1, and . CREBBP. © 2012 Elsevier B.V.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.gene.2012.02.043
dc.sourceScopus
dc.subjectCREBBP
dc.subjectDNASE 1
dc.subjectMicrodeletion
dc.subjectRubinstein-Taybi syndrome
dc.subjectTRAP 1
dc.typeArticle
dc.contributor.departmentPSYCHOLOGICAL MEDICINE
dc.description.doi10.1016/j.gene.2012.02.043
dc.description.sourcetitleGene
dc.description.volume499
dc.description.issue1
dc.description.page182-185
dc.description.codenGENED
dc.identifier.isiut000303621400027
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