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Case Reports
. 2016 Sep;61(9):831-4.
doi: 10.1038/jhg.2016.51. Epub 2016 May 19.

EED-associated overgrowth in a second male patient

Ana Sa Cohen  1   2 , William T Gibson  1   2
Affiliations
Case Reports

EED-associated overgrowth in a second male patient

Ana Sa Cohen et al. J Hum Genet. 2016 Sep.

Abstract

Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated overgrowth is significant. Now that we have found two unrelated families of different ethnicities, with a similar rare phenotype, both associated with de novo mutations in this member of the PRC2 complex, we are confident that EED is indeed a novel overgrowth gene.

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