Waardenburg syndrome

dc.authorid0000-0001-7191-2240
dc.contributor.authorSılan, Fatma
dc.contributor.authorZafer, Cansu
dc.date.accessioned2021-06-23T18:54:25Z
dc.date.available2021-06-23T18:54:25Z
dc.date.issued2005
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractWaardenburg Syndrome (WS) is an autosomal dominant syndrome characterized with hearing loss and pigmentation disorders. Its frequency has been reported to be 1/20.000-40.000. Among its clinical features dystopia canthorum, high broad nasal root, synorphrys, heterochromia iridium or isochromic blue irides of both eyes, white forelock, pigmentary disorders and congenital sensorineural hearing loss can be enumerated. This syndrome is clinically and genetically heterogenous and classified into four types, WS type 1 and 3 are differentiated from type 2 and 4 by the presence of dystopia canthorum. WS type 3 also has also similar characteristics in addition to extremity abnormalities. WS type 4 is also associated with Hirschsprung Syndrome. WS type 4 also discriminates from the other 3 types by its autosomal recessive characteristics.en_US
dc.identifier.endpage61en_US
dc.identifier.issn1016-5134
dc.identifier.issue10en_US
dc.identifier.scopus2-s2.0-28444478098en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage57en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/4419
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-28444478098&partnerID=40&md5=46f65c6f6396bcab467c6133cb19c4cb
dc.identifier.volume17en_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorSılan, Fatma
dc.language.isotren_US
dc.relation.ispartofSENDROMen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectWaardenburg Syndromeen_US
dc.titleWaardenburg syndromeen_US
dc.title.alternativeWaardenburg sendromuen_US
dc.typeReview Articleen_US

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