Literature DB >> 20982477

Dysplasia epiphysealis multiplex.

H A T FAIRBANK.   

Abstract

Entities:  

Keywords:  BONES/deformities

Mesh：

Year:  1946        PMID： 20982477

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN： 0035-9157


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  2 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

2.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878
  2 in total

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