Literature DB >> 12073115

Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up.

A K Mostert1, B R H Jansen, P F Dijkstra, E Wesby-van Swaay, J R van Horn, P Heutink, D Lindhout.   

Abstract

Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.

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Year:  2002        PMID: 12073115      PMCID: PMC3620887          DOI: 10.1007/s00264-002-0341-9

Source DB:  PubMed          Journal:  Int Orthop        ISSN: 0341-2695            Impact factor:   3.075


  1 in total

1.  Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Authors:  Gail C Jackson; Dominique Marcus-Soekarman; Irene Stolte-Dijkstra; Aad Verrips; Jacqueline A Taylor; Michael D Briggs
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

  1 in total

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