Literature DB >> 15211646

Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

Piranit Nik Kantaputra1.   

Abstract

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Year:  2004        PMID： 15211646     DOI： 10.1002/ajmg.a.20642

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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1.  Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Authors:  Piranit N Kantaputra; Eva Klopocki; Bianca P Hennig; Verayuth Praphanphoj; Cédric Le Caignec; Bertrand Isidor; Mei L Kwee; Deborah J Shears; Stefan Mundlos
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246
  1 in total

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