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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
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?
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
2023 Impact Factor: 0.6
2020 SCImago Journal Rankings: 0.210
PubMed Central ID
ISI Accession Number ID

 

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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