dc.contributor.author | Ural, Ülkü Mete | |
dc.contributor.author | Ceylaner, Serdar | |
dc.date.accessioned | 2020-12-19T19:50:29Z | |
dc.date.available | 2020-12-19T19:50:29Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Ural, U.M., Ceylaner, S. (2016). Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. Taiwanese Journal of Obstetrics & Gynecology, 55(4), 613-615. https://doi.org/10.1016/j.tjog.2016.06.011 | |
dc.identifier.issn | 1028-4559 | |
dc.identifier.uri | https://doi.org/10.1016/j.tjog.2016.06.011 | |
dc.identifier.uri | https://hdl.handle.net/11436/2435 | |
dc.description | WOS: 000385786400031 | en_US |
dc.description | PubMed: 27590395 | en_US |
dc.description.abstract | Dear Editor,
The acrofacial dysostosis syndromes (AFDs) involve a group of
disorders characterized by mandibulofacial dysostosis and limb
anomalies [1,2]. They are classified into two major groups according
to the type of limb defects; Nager type and GeneeeWiedemann
type. The Nager type and GeneeeWiedemann type resemble each
other in terms of facial findings. However, Nager AFD is characterized with preaxial limb anomalies, while postaxial limb anomalies are typical for GeneeeWiedemann AFD. Pattern of inheritance
is mostly autosomal dominant for most AFDs and the majority of
cases are likely to ensource from a new mutation [3]. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Elsevier Taiwan | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Prenatal-diagnosis | en_US |
dc.title | Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia | en_US |
dc.type | article | en_US |
dc.contributor.department | RTEÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü | en_US |
dc.contributor.institutionauthor | Ural, Ülkü Mete | |
dc.identifier.doi | 10.1016/j.tjog.2016.06.011 | |
dc.identifier.volume | 55 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.startpage | 613 | en_US |
dc.identifier.endpage | 615 | en_US |
dc.ri.edit | oa | en_US |
dc.relation.journal | Taiwanese Journal of Obstetrics & Gynecology | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |