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A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
dc.contributor.authorVincent, Krista Marie
dc.contributor.authorStavropoulos, Dimitri J.
dc.contributor.authorBeaulieu-Bergeron, Melanie
dc.contributor.authorYang, Chen
dc.contributor.authorJiang, Mary
dc.contributor.authorZuijdwijk, Caroline
dc.contributor.authorDyment, David A.
dc.contributor.authorGraham, Gail E.
dc.date.accessioned2022-08-02T18:57:46Z
dc.date.available2023-09-02 14:57:40en
dc.date.available2022-08-02T18:57:46Z
dc.date.issued2022-08
dc.identifier.citationVincent, Krista Marie; Stavropoulos, Dimitri J.; Beaulieu-Bergeron, Melanie ; Yang, Chen; Jiang, Mary; Zuijdwijk, Caroline; Dyment, David A.; Graham, Gail E. (2022). "A 79- kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver- Russell syndrome- like phenotype." American Journal of Medical Genetics Part A 188(8): 2421-2428.
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.urihttps://hdl.handle.net/2027.42/173115
dc.description.abstractMaternal uniparental disomy of human chromosome 7 [upd(7)mat] is well-characterized as a cause of the growth disorder Silver-Russell syndrome (SRS). However, the causative gene is not currently known. There is growing evidence that molecular changes at the imprinted MEST region in 7q32.2 are associated with a phenotype evocative of SRS. This report details a patient with a SRS-like phenotype and a paternally inherited microdeletion of 79 kilobases (35-fold smaller than the previously reported smallest deletion) in the 7q32.2 region. This microdeletion encompasses only five genes, including MEST, which corroborates the hypothesis that MEST plays a central role in the 7q32.2 microdeletion growth disorder, as well as further implicating MEST in upd(7)mat SRS itself.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.otherupd(7)mat
dc.subject.other7q32.2 microdeletion
dc.subject.otherRussell–Silver syndrome
dc.subject.otherSilver–Russell syndrome
dc.titleA 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/173115/1/ajmga62782.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/173115/2/ajmga62782_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/173115/3/ajmga62782-sup-0001-FigureS1.pdf
dc.identifier.doi10.1002/ajmg.a.62782
dc.identifier.sourceAmerican Journal of Medical Genetics Part A
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dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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