Warburg Micro Syndrome in Two Children From a Highly Inbred Turkish Family

Basit Öğe Kaydı
dc.contributor.authorYıldırım, M. S.
dc.contributor.authorZamani, A. G.
dc.contributor.authorBozkurt, B.
dc.date.accessioned2020-03-26T18:32:09Z
dc.date.available2020-03-26T18:32:09Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractWarburg micro syndrome in two children from a highly inbred Turkish family: Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.en_US
dc.identifier.citationYıldırım, M. S., Zamani, A. G., Bozkurt, B., (2012). Warburg Micro Syndrome in Two Children From a Highly Inbred Turkish Family. Genetic Counseling, 23(2), 169-174.
dc.identifier.endpage174en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue2en_US
dc.identifier.pmid22876574en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage169en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/28627
dc.identifier.volume23en_US
dc.identifier.wosWOS:000306574200004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorBozkurt, B.
dc.language.isoenen_US
dc.publisherMEDECINE ET HYGIENEen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectMicro syndromeen_US
dc.subjectCataracten_US
dc.subjectConsanguinityen_US
dc.titleWarburg Micro Syndrome in Two Children From a Highly Inbred Turkish Familyen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
8627.pdf
Boyut:
23.76 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Makale Dosyası
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
Tıbbi Genetik/Makale Koleksiyonu