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Approach to overgrowth syndromes in the genome era.

Deepika D'Cunha BurkardtKatrina Tatton-BrownWilliam B DobynsJohn M Graham
Published in: American journal of medical genetics. Part C, Seminars in medical genetics (2019)
This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a preliminary classification based on currently known genomic and epigenetic mechanisms. We introduce the articles of this issue-new research and reviews of well-established and recently described overgrowth syndromes of the brain, body or both.
Keyphrases
  • machine learning
  • gene expression
  • dna methylation
  • randomized controlled trial
  • white matter
  • multiple sclerosis
  • resting state
  • genome wide