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Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postnatal follow-up

2025-01-24Conference object Open access
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dc.contributor.authorSimão, Laurentino
dc.contributor.authorPedro, Sónia
dc.contributor.authorMarques, Bárbara
dc.contributor.authorSerafim, Sílvia
dc.contributor.authorFerreira, Cristina
dc.contributor.authorTarelho, Ana
dc.contributor.authorBrito, Filomena
dc.contributor.authorSilva, Marisa
dc.contributor.authorAlves, Cristina
dc.contributor.authorViegas, Mónica
dc.contributor.authorSilva, Ana Paula
dc.contributor.authorRodrigues, Márcia
dc.contributor.authorFerreira, Ângela
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2025-03-31T09:39:30Z
dc.date.available2025-03-31T09:39:30Z
dc.date.issued2025-01-24
dc.description.abstractDistal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.eng
dc.identifier.doi10.1097/md.0000000000039478
dc.identifier.issn1536-5964
dc.identifier.urihttp://hdl.handle.net/10400.1/26964
dc.language.isoeng
dc.peerreviewedyes
dc.publisherOvid Technologies (Wolters Kluwer Health)
dc.relation.hasversionhttps://journals.lww.com/md-journal/fulltext/2025/01240/proceedings_of_the_27th_annual_meeting_of_the.12.aspx
dc.relation.ispartofMedicine
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleReport of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postnatal follow-upeng
dc.title.alternativeProceedings of the 27th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana) Lisbon, 23 -25 November 2023eng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2023-11-23
oaire.citation.conferencePlace27th Annual Meeting of the Portuguese Society of Human Genetics
oaire.citation.endPage33
oaire.citation.issue4
oaire.citation.startPage33
oaire.citation.titleMedicine
oaire.citation.volume104
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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