ArticleJournal of human genetics2016
EED-associated overgrowth in a second male patient.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.Molecular genetics & genomic medicine · 2026Article
- From chromatin dynamics to brain disease: Polycomb-Trithorax mechanisms in neurodevelopment.Trends in neurosciences · 2026Review
- Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novelFrontiers in genetics · 2026Article
- Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders.Epigenetics & chromatin · 2025Article
- Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Functional analysis of human EED variants using Drosophila.Genetics · 2025Article
- Article
- Polycomb repressive complex 2 is critical for mouse cortical glutamatergic neuron development.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Article
- Mechanisms of DNA Methylation Regulatory Function and Crosstalk with Histone Lysine Methylation.Journal of molecular biology · 2024Review
- A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.JCI insight · 2024Article
- A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.Genetics · 2023Article
- Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nature communications · 2023Article
- Epigenetic regulation of embryonic ectoderm development in stem cell differentiation and transformation during ontogenesis.Cell proliferation · 2023Review
- AmedRxiv : the preprint server for health sciences · 2023Article
- Non-canonical functions of EZH2 in cancer.Frontiers in oncology · 2023Review
- Transient Polycomb activity represses developmental genes in growing oocytes.Clinical epigenetics · 2022Article
- The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.Stem cell reports · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
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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Identifiers
27193220What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.