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EED-associated overgrowth in a second male patient.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Cohen AS,Gibson WT

doi

10.1038/jhg.2016.51

subject

Has Abstract

pub_date

2016-09-01 00:00:00

pages

831-4

issue

9

eissn

1434-5161

issn

1435-232X

pii

jhg201651

journal_volume

61

pub_type

杂志文章

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