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Publication Detail
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Voermans NC, Kleefstra T, Gabreëls-Festen AA, Faas BHW, Kamsteeg E-J, Houlden H, Laurá M, Polke JM, Pandraud A, van Ruissen F, van Engelen BG, Reilly MM
  • Publication date:
    06/2012
  • Pagination:
    223, 225
  • Journal:
    J Peripher Nerv Syst
  • Volume:
    17
  • Issue:
    2
  • Status:
    Published
  • Country:
    United States
  • Language:
    eng
  • Keywords:
    Abnormalities, Multiple, Chromosomes, Human, Pair 3, Female, Gene Deletion, Hereditary Sensory and Motor Neuropathy, Humans, Myelin Proteins, Point Mutation, Respiratory Insufficiency, Young Adult
Abstract
No abstract found
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Author
Department of Neuromuscular Diseases
Author
Department of Neuromuscular Diseases
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