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De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

AuthorsGabor Matyas, Paulina Naef, Martin Tollens, Konrad Oexle
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 8 Pg. 2141-3 (Aug 2014) ISSN: 1552-4833 [Electronic] United States
PMID24798638 (Publication Type: Letter, Research Support, Non-U.S. Gov't, Comment)
Chemical References
  • Transforming Growth Factor beta3
Topics
  • Animals
  • Arthrogryposis (genetics)
  • Female
  • Growth Disorders (genetics)
  • Humans
  • Loeys-Dietz Syndrome (genetics)
  • Male
  • Marfan Syndrome (genetics)
  • Muscle Weakness (genetics)
  • Mutation (genetics)
  • Transforming Growth Factor beta3 (genetics)

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