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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome

Academic Article
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Overview

authors

  • Rienhoff Jr., H. Y.
  • Yeo, C. Y.
  • Morissette, R.
  • Khrebtukova, I.
  • Melnick, Jonathan
  • Luo, S.
  • Leng, N.
  • Kim, Y. J.
  • Schroth, G.
  • Westwick, J.
  • Vogel, H.
  • McDonnell, N.
  • Hall, J. G.
  • Whitman, M.

publication date

  • 2013

journal

  • American Journal of Medical Genetics Part A  Journal

subject areas

  • Adult
  • Animals
  • Arthrogryposis
  • Cells, Cultured
  • Child
  • Embryo, Nonmammalian
  • Female
  • Growth Disorders
  • Humans
  • Loeys-Dietz Syndrome
  • Male
  • Marfan Syndrome
  • Muscle Weakness
  • Mutation
  • Phenotype
  • Signal Transduction
  • Transforming Growth Factor beta3
  • Xenopus laevis
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Identity

PubMed Central ID

  • PMC3885154

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.36056

PubMed ID

  • 23824657
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Additional Document Info

start page

  • 2040

end page

  • 2046

volume

  • 161

issue

  • 8

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