A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency

Basit Öğe Kaydı
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorVural, Ayse
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorKilicgun, Hasan
dc.contributor.authorBaser, Burak
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T09:37:34Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T09:37:34Z
dc.date.issued2018
dc.department[Yildirim, Malik Ejder -- Kurtulgan, Hande Kucuk -- Baser, Burak] Cumhuriyet Univ, Dept Med Genet, Fac Med, Sivas, Turkey -- [Vural, Ayse] Cumhuriyet Univ, Dept Ophthalmol, Fac Med, Sivas, Turkey -- [Kilicgun, Hasan] Erzincan Univ, Fac Hlth Sci, Dept Nutr & Dietet, Erzincan, Turkeyen_US
dc.description.abstractWeill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are significant and may require some interventions such as eye surgery, physical therapy or orthopedic procedures. Here we report on an eleven year old female with glaucoma, ectopia lentis, microspherophakia, brachydactyly and vitamin D deficiency from Sivas, Turkey. She was suffering from Weill-Marchesani syndrome with ADAMTS10 mutation.en_US
dc.identifier.doi10.4328/JCAM.5718en_US
dc.identifier.endpage580en_US
dc.identifier.issn1309-0720
dc.identifier.issn1309-2014
dc.identifier.issue6en_US
dc.identifier.startpage578en_US
dc.identifier.urihttps://dx.doi.org/10.4328/JCAM.5718
dc.identifier.urihttps://hdl.handle.net/20.500.12418/6116
dc.identifier.volume9en_US
dc.identifier.wosWOS:000445434700025en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherDERMAN MEDICAL PUBLen_US
dc.relation.ispartofJOURNAL OF CLINICAL AND ANALYTICAL MEDICINEen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectWeill-Marchesani Syndromeen_US
dc.subjectMicrospherophakiaen_US
dc.subjectGlaucomaen_US
dc.subjectBrachydactylyen_US
dc.subjectVitamin D Deficiencyen_US
dc.titleA case of weill-marchesani syndrome with a novel mutation and vitamin d deficiencyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu