• Media type: E-Article
  • Title: POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
  • Contributor: von Renesse, Anja; Petkova, Mina V; Lützkendorf, Susanne; Heinemeyer, Jan; Gill, Esther; Hübner, Christoph; von Moers, Arpad; Stenzel, Werner; Schuelke, Markus
  • imprint: BMJ, 2014
  • Published in: Journal of Medical Genetics
  • Language: English
  • DOI: 10.1136/jmedgenet-2013-102236
  • ISSN: 0022-2593; 1468-6244
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
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