Publication:

Chromosomes in coloboma and anal atresia

Date

Date

Date
1965
Journal Article
Published version
Simple data Full metadata Statistics
cris.lastimport.scopus2025-06-21T03:37:35Z
dc.contributor.institutionUniversity of Zurich
dc.date.accessioned2023-08-15T14:54:57Z
dc.date.available2023-08-15T14:54:57Z
dc.date.issued1965-08-01
dc.description.abstract

SIR, -The association of coloboma with anal atresia was described in 1878 by Haab.1 We have been studying the chromosomes of 3 cases of this syndrome, independently ascertained in Zurich (cases 1 and 2) and Pavia (case 3). The phenotypic similarity of the 3 patients and the consistent finding in all of an abnormal extra chromosome of identical appearance indicate that this could be a new "chromosomal" disease. The clinical data are given below.

dc.identifier.doi10.1016/s0140-6736(65)92415-3
dc.identifier.issn0140-6736
dc.identifier.scopus2-s2.0-0000173015
dc.identifier.urihttps://www.zora.uzh.ch/handle/20.500.14742/209031
dc.language.isoeng
dc.subjectGeneral Medicine
dc.subjectGenetics
dc.subjectGenetics (clinical)
dc.subjectAnal Canal
dc.subjectAnus
dc.subjectImperforate
dc.subjectChild
dc.subjectChromosome Aberrations
dc.subjectChromosome Disorders
dc.subjectChromosomes
dc.subjectColoboma
dc.subjectCongenital Abnormalities
dc.subjectEye Diseases
dc.subjectHumans
dc.subjectInfant
dc.subjectIntestinal Diseases
dc.subject.ddc570 Life sciences; biology
dc.subject.ddc610 Medicine & health
dc.title

Chromosomes in coloboma and anal atresia

dc.typearticle
dcterms.accessRightsinfo:eu-repo/semantics/restrictedAccess
dcterms.bibliographicCitation.journaltitleThe Lancet
dcterms.bibliographicCitation.number7406
dcterms.bibliographicCitation.originalpublishernameElsevier
dcterms.bibliographicCitation.pagestart290
dcterms.bibliographicCitation.pmid14330081
dcterms.bibliographicCitation.volume286
dspace.entity.typePublicationen
uzh.contributor.affiliationSwiss School of Nursing
uzh.contributor.affiliationUniversity Pædiatric Clinic
uzh.contributor.affiliationUniversità degli Studi di Pavia
uzh.contributor.affiliationUniversità degli Studi di Pavia
uzh.contributor.affiliationUniversità degli Studi di Pavia
uzh.contributor.affiliationUniversità degli Studi di Pavia
uzh.contributor.affiliationUniversità degli Studi di Pavia
uzh.contributor.authorSchachenmann, G
uzh.contributor.authorSchmid, Werner
uzh.contributor.authorFraccaro, Marco
uzh.contributor.authorMannini, Anna
uzh.contributor.authorTiepolo, L
uzh.contributor.authorPerona, G P
uzh.contributor.authorSartori, E
uzh.contributor.correspondenceYes
uzh.contributor.correspondenceNo
uzh.contributor.correspondenceNo
uzh.contributor.correspondenceNo
uzh.contributor.correspondenceNo
uzh.contributor.correspondenceNo
uzh.contributor.correspondenceNo
uzh.document.availabilitynone
uzh.eprint.datestamp2023-08-15 14:54:57
uzh.eprint.lastmod2025-06-21 03:37:35
uzh.eprint.statusChange2023-08-15 14:54:57
uzh.harvester.ethYes
uzh.harvester.nbNo
uzh.identifier.doi10.5167/uzh-235325
uzh.jdb.eprintsId17948
uzh.oastatus.unpaywallclosed
uzh.oastatus.zoraClosed
uzh.publication.citationSchachenmann, G., Schmid, W., Fraccaro, M., Mannini, A., Tiepolo, L., Perona, G. P., & Sartori, E. (1965). Chromosomes in coloboma and anal atresia. The Lancet, 286, 290. https://doi.org/10.1016/s0140-6736(65)92415-3
uzh.publication.originalworkfurther
uzh.publication.publishedStatusfinal
uzh.scopus.impact82
uzh.scopus.subjectsGeneral Medicine
uzh.workflow.doajuzh.workflow.doaj.false
uzh.workflow.eprintid235325
uzh.workflow.fulltextStatusrestricted
uzh.workflow.revisions23
uzh.workflow.rightsCheckkeininfo
uzh.workflow.sourceCrossref:10.1016/s0140-6736(65)92415-3
uzh.workflow.statusarchive
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