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Review
. 2019 Dec;181(4):483-490.
doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2.

Approach to overgrowth syndromes in the genome era

Deepika D Burkardt  1 , Katrina Tatton-Brown  2   3   4 , William Dobyns  5 , John M Graham Jr  6
Affiliations
Review

Approach to overgrowth syndromes in the genome era

Deepika D Burkardt et al. Am J Med Genet C Semin Med Genet. 2019 Dec.

Abstract

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.

Keywords: epigenetic regulation; macrocephaly; megalencephaly; overgrowth.

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