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Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization

2019-11-14Conference object Restricted access
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dc.contributor.authorSoares, Marta P.
dc.contributor.authorRodrigues, Márcia
dc.contributor.authorDupont, Juliette
dc.contributor.authorMedeira, Ana
dc.contributor.authorFreixo, João
dc.contributor.authorNunes, Sofia
dc.contributor.authorCordeiro, Isabel
dc.contributor.authorTravessa, André
dc.contributor.authorSoares, Gabriela
dc.contributor.authorFortuna, Ana
dc.contributor.authorRamos, Fabiana
dc.contributor.authorSá, Joaquim
dc.contributor.authorRocha, Susana
dc.contributor.authorFigueiredo, Cristina
dc.contributor.authorMendonça, Carla
dc.contributor.authorTapadinhas, Fernando
dc.contributor.authorSilveira-Santos, Rosário
dc.contributor.authorCustódio, Sónia
dc.contributor.authorBarreta, Ana
dc.contributor.authorSerafim, Sílvia
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorVal, Mariana
dc.contributor.authorCarreira, Isabel M.
dc.contributor.authorRendeiro, Paula
dc.contributor.authorSousa, Ana
dc.contributor.authorSousa, Ana Berta
dc.date.accessioned2020-06-09T09:50:39Z
dc.date.available2020-06-09T09:50:39Z
dc.date.issued2019-11-14
dc.description.abstractIntroduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in Portugal diagnosed with KdVS.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6968
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectKoolen-de Vries syndromept_PT
dc.subjectNational Case Seriespt_PT
dc.subject17q21.31 Deletionpt_PT
dc.subjectKANSL1 genept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleKoolen-de Vries syndrome – National Case Series with clinical and molecular characterizationpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceCombra, Portugalpt_PT
oaire.citation.title23nd Annual Meeting of the Portuguese Society of Human Genetics, 14-16 Novembro 2019pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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