Weismann-Netter-Stuhl Syndrome: A Family Report
dc.contributor.author | Alp, Hayrullah | |
dc.contributor.author | Atabek, Mehmet Emre | |
dc.contributor.author | Pirgon, Özgür | |
dc.date.accessioned | 2020-03-26T17:45:56Z | |
dc.date.available | 2020-03-26T17:45:56Z | |
dc.date.issued | 2009 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members. | en_US |
dc.identifier.citation | Alp, H., Atabek, M. E., Pirgon, Ö., (2009). Weismann-Netter-Stuhl Syndrome: A Family Report. Jcrpe Journal of Clinical Research in Pediatric Endocrinology, 1(4), 194-196. Doi: 10.4008/jcrpe.v1i4.45 | |
dc.identifier.doi | 10.4008/jcrpe.v1i4.45 | en_US |
dc.identifier.endpage | 196 | en_US |
dc.identifier.issn | 1308-5727 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.pmid | 21274295 | en_US |
dc.identifier.scopusquality | Q2 | en_US |
dc.identifier.startpage | 194 | en_US |
dc.identifier.uri | https://dx.doi.org/10.4008/jcrpe.v1i4.45 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/24219 | |
dc.identifier.volume | 1 | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.institutionauthor | Alp, Hayrullah | |
dc.institutionauthor | Atabek, Mehmet Emre | |
dc.institutionauthor | Pirgon, Özgür | |
dc.language.iso | en | en_US |
dc.relation.ispartof | Jcrpe Journal of Clinical Research in Pediatric Endocrinology | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.selcuk | 20240510_oaig | en_US |
dc.subject | Femur involvement | en_US |
dc.subject | Radiography | en_US |
dc.subject | Weismann-Netter-Stuhl syndrome | en_US |
dc.title | Weismann-Netter-Stuhl Syndrome: A Family Report | en_US |
dc.type | Article | en_US |
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