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Article: Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

TitlePrenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis
Authors
LIN, SMLUK, HMLO, IFMTAM, WKChan, KYKTSE, HYLeung, WCTang, MHYKan, ASY
Keywordsmolecular diagnosis
mosaic variegated aneuploidy
prenatal diagnosis
Issue Date2020
PublisherWiley Open Access: Various Creative Commons Licenses. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904
Citation
Clinical Case Reports, 2020, v. 8 n. 8, p. 1369-1375 How to Cite?
DOI: http://dx.doi.org/10.1002/ccr3.2802
AbstractMosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐related MVA.
Persistent Identifierhttp://hdl.handle.net/10722/294186
ISSN
2050-0904
2023 Impact Factor: 0.6
2020 SCImago Journal Rankings: 0.210
PubMed Central ID
PMC7455400
ISI Accession Number ID
WOS:000534539600001

 

DC FieldValueLanguage
dc.contributor.authorLIN, SM-
dc.contributor.authorLUK, HM-
dc.contributor.authorLO, IFM-
dc.contributor.authorTAM, WK-
dc.contributor.authorChan, KYK-
dc.contributor.authorTSE, HY-
dc.contributor.authorLeung, WC-
dc.contributor.authorTang, MHY-
dc.contributor.authorKan, ASY-
dc.date.accessioned2020-11-23T08:27:36Z-
dc.date.available2020-11-23T08:27:36Z-
dc.date.issued2020-
dc.identifier.citationClinical Case Reports, 2020, v. 8 n. 8, p. 1369-1375-
dc.identifier.issn2050-0904-
dc.identifier.urihttp://hdl.handle.net/10722/294186-
dc.description.abstractMosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐related MVA.-
dc.languageeng-
dc.publisherWiley Open Access: Various Creative Commons Licenses. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904-
dc.relation.ispartofClinical Case Reports-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectmolecular diagnosis-
dc.subjectmosaic variegated aneuploidy-
dc.subjectprenatal diagnosis-
dc.titlePrenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis-
dc.typeArticle-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailLeung, WC: leungwc6@hkucc.hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailKan, ASY: kansya@hkucc.hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityTang, MHY=rp01701-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1002/ccr3.2802-
dc.identifier.pmid32884756-
dc.identifier.pmcidPMC7455400-
dc.identifier.scopuseid_2-s2.0-85085052434-
dc.identifier.hkuros319300-
dc.identifier.volume8-
dc.identifier.issue8-
dc.identifier.spage1369-
dc.identifier.epage1375-
dc.identifier.isiWOS:000534539600001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl2050-0904-

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