Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: A Further Contribution

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dc.contributor.authorYıldırım, M. S.
dc.contributor.authorOgun, T. C.
dc.contributor.authorKamış, U.
dc.date.accessioned2020-03-26T17:03:22Z
dc.date.available2020-03-26T17:03:22Z
dc.date.issued2006
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractEctrodacryly, ectodermal dysplasia, macular degeneration syndrome: A further contribution: EEM Syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur. We report two brothers and a sister born to consanguineous parents with EEM syndrome. EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. In contrast to other ectrodactyly syndromes autosomal recessive inheritance is most likely.en_US
dc.identifier.citationYıldırım, M. S., Ogun, T. C., Kamış, U., (2006). Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: A Further Contribution. Genetic Counseling, 17(2), 149-153.
dc.identifier.endpage153en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue2en_US
dc.identifier.pmid16970031en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage149en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/20439
dc.identifier.volume17en_US
dc.identifier.wosWOS:000240232100001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorYıldırım, M. S.
dc.institutionauthorOgun, T. C.
dc.institutionauthorKamış, U.
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/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectEem syndromeen_US
dc.subjectEctrodactylyen_US
dc.titleEctrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: A Further Contributionen_US
dc.typeArticleen_US

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