HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

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dc.contributor.authorBurkardt, D.D.
dc.contributor.authorZachariou, A.
dc.contributor.authorLoveday, C.
dc.contributor.authorAllen, C.L.
dc.contributor.authorAmor, D.J.
dc.contributor.authorArdissone, A.
dc.contributor.authorBanka, S.
dc.contributor.authorBourgois, A.
dc.contributor.authorCoubes, C.
dc.contributor.authorLay-Son Rodríguez, Guillermo Roberto
dc.date.accessioned2020-10-15T20:40:45Z
dc.date.available2020-10-15T20:40:45Z
dc.date.issued2019
dc.format.extent7 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1002/ajmg.a.61321
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.61321
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/47547
dc.issue.numeroNo. 10
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final2055
dc.pagina.inicio2049
dc.revistaAmerican Journal of Medical Genetics Part Aes_ES
dc.rightsacceso restringido
dc.subjectEpigenetic regulator genees_ES
dc.subjectHIST1H1Ees_ES
dc.subjectintellectual disabilityes_ES
dc.subjectRahman syndromees_ES
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.otherAnomalías congénitases_ES
dc.subject.otherRegulación genéticaes_ES
dc.titleHIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individualses_ES
dc.typeartículo
dc.volumenVol. 179
sipa.codpersvinculados1081531
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