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Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey

2016Journal article Open access
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dc.contributor.authorSchatorjé, E
dc.contributor.authorvan der Flier, M
dc.contributor.authorSeppänen, M
dc.contributor.authorBrowning, M
dc.contributor.authorMorsheimer, M
dc.contributor.authorHenriet, S
dc.contributor.authorNeves, JF
dc.contributor.authorVinh, D
dc.contributor.authorAlsina, L
dc.contributor.authorGrumach, A
dc.contributor.authorSoler-Palacin, P
dc.contributor.authorBoyce, T
dc.contributor.authorCelmeli, F
dc.contributor.authorGoudouris, E
dc.contributor.authorHayman, G
dc.contributor.authorHerriot, R
dc.contributor.authorFörster-Waldl, E
dc.contributor.authorSeidel, M
dc.contributor.authorSimons, A
dc.contributor.authorde Vries, E
dc.date.accessioned2016-08-11T10:47:48Z
dc.date.available2016-08-11T10:47:48Z
dc.date.issued2016
dc.description.abstractPatients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.pt_PT
dc.identifier.citationOrphanet J Rare Dis. 2016 Aug 2;11(1):110pt_PT
dc.identifier.doi10.1186/s13023-016-0492-1pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2551
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.subjectChromosomal aberrationpt_PT
dc.subjectGeneticspt_PT
dc.subjectImmunologypt_PT
dc.subjectMental retardationpt_PT
dc.subjectPrimary immunodeficiencypt_PT
dc.subjectRecurrent infectionspt_PT
dc.subjectHDE PEDpt_PT
dc.titlePrimary Immunodeficiency Associated with Chromosomal Aberration - an ESID Surveypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.startPage110pt_PT
oaire.citation.volume11pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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