Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/5652
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dc.contributor.authorKılıç, İlknur-
dc.contributor.authorKılıç, B. Alper-
dc.contributor.authorErgin, Hacer-
dc.contributor.authorAygün, M.G.-
dc.contributor.authorAkşit, M. Arif-
dc.date.accessioned2019-08-16T11:51:29Z
dc.date.available2019-08-16T11:51:29Z
dc.date.issued1998-
dc.identifier.issn0148-7299-
dc.identifier.urihttps://hdl.handle.net/11499/5652-
dc.identifier.urihttps://doi.org/10.1002/(SICI)1096-8628(19980428)77:1<28-
dc.description.abstractUnaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectuse muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.en_US
dc.language.isoenen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCamptodactylyen_US
dc.subjectFibrosis of the medial rectusen_US
dc.subjectMyopiaen_US
dc.subjectPtosisen_US
dc.subjectadolescenten_US
dc.subjectarticleen_US
dc.subjectautosomal recessive disorderen_US
dc.subjectcamptodactylyen_US
dc.subjectcase reporten_US
dc.subjectconsanguinityen_US
dc.subjectextraocular muscleen_US
dc.subjectfemaleen_US
dc.subjecthumanen_US
dc.subjectmuscle biopsyen_US
dc.subjectmyofibrosisen_US
dc.subjectmyopiaen_US
dc.subjectpriority journalen_US
dc.subjectptosisen_US
dc.subjectAbnormalities, Multipleen_US
dc.subjectAdolescenten_US
dc.subjectChilden_US
dc.subjectConsanguinityen_US
dc.subjectContractureen_US
dc.subjectFemaleen_US
dc.subjectFibrosisen_US
dc.subjectFingersen_US
dc.subjectGenes, Recessiveen_US
dc.subjectHumansen_US
dc.subjectMaleen_US
dc.subjectOculomotor Musclesen_US
dc.subjectSyndromeen_US
dc.subjectRaphia frateren_US
dc.subjectRectusen_US
dc.titleCamptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?en_US
dc.typeArticleen_US
dc.identifier.volume77en_US
dc.identifier.issue1en_US
dc.identifier.startpage28
dc.identifier.startpage28en_US
dc.identifier.endpage30en_US
dc.identifier.doi10.1002/(SICI)1096-8628(19980428)77:1<28-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid9557890en_US
dc.identifier.scopus2-s2.0-0032574632en_US
dc.identifier.wosWOS:000072900900007en_US
dc.ownerPamukkale_University-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeArticle-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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