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Epiphyseal dysplasia, multiple, 4

*Gene map locus 5q32-q33.1
EDM4
Multiple epiphyseal dysplasia with bilayered patellae
Multiple epiphyseal dysplasia with clubfoot
Multiple epiphyseal dysplasia, autosomal recessive
[Clinical features: scoliosis; double layered patella; arthralgia; flat proximal femoral epiphyses; brachydactyly; club foot]
[Inheritance: autosomal recessive]

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics


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Edited by Aldo Campana, July 4, 2014