Cargando…
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report
BACKGROUND: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms. CASE...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902411/ https://www.ncbi.nlm.nih.gov/pubmed/20525296 http://dx.doi.org/10.1186/1471-2474-11-110 |