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, August 21, 2012