Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis
Author:
Publisher
Elsevier BV
Subject
Rheumatology
Reference29 articles.
1. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W;Ballhausen;Journal of Medical Genetics,2003
2. Stature and severity in multiple epiphyseal dysplasia;Haga;Journal of Pediatric Orthopaedics,1998
3. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations;Jakkula;Journal of Medical Genetics,2003
4. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations;Jakkula;European Journal of Human Genetics,2005
5. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population;Itoh;American Journal of Medical Genetics A,2006
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