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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hinrichs, Timo, Superti-Furga, Andrea, Scheiderer, Wolf-Dieter, Bonafé, Luisa, Brenner, Rolf E, Mattes, Thomas
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case report
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

Internet

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

Ejemplares similares