Pseudoachondroplasia in a child with prolapse of the mitral valve
| dc.authorid | 113274 | en_US |
| dc.contributor.author | Karakurt, Cemşit | |
| dc.contributor.author | Karademir, Selmin | |
| dc.contributor.author | Üner, Çiğdem | |
| dc.date.accessioned | 2017-08-24T07:46:30Z | |
| dc.date.available | 2017-08-24T07:46:30Z | |
| dc.date.issued | 2001 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description.abstract | Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported. | en_US |
| dc.identifier.citation | Karakurt, C. Karademir, S. Üner, Ç. (2011). Pseudoachondroplasia in a child with prolapse of the mitral valve. Cardiology in the Young. 11: 559–561. | en_US |
| dc.identifier.doi | 10.1017/S1047951101000828 | en_US |
| dc.identifier.endpage | 561 | en_US |
| dc.identifier.issn | 1047-9511 | |
| dc.identifier.startpage | 559 | en_US |
| dc.identifier.uri | https://hdl.handle.net/11616/7711 | |
| dc.identifier.volume | 11 | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Cardiology in the Young | en_US |
| dc.relation.ispartof | Cardiology in the Young | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Short-limb dwarfism | en_US |
| dc.subject | Systemic abnormalities | en_US |
| dc.subject | Prolapse of the leaflet | en_US |
| dc.title | Pseudoachondroplasia in a child with prolapse of the mitral valve | en_US |
| dc.type | Article | en_US |
