Rare SUZ12 variants commonly cause an overgrowth phenotype.

doi:10.1002/ajmg.c.31748

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Rare SUZ12 variants commonly cause an overgrowth phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019

Cyrus Sharri S, Cohen Ana S A, Agbahovbe Ruky, Avela Kristiina, Yeung Kit S, Chung Brian H Y, Luk Ho-Ming, Tkachenko Nataliya, Choufani Sanaa, Weksberg Rosanna, Lopez-Rangel Elena, Brown Kathleen, Saenz Margarita S, Svihovec Shayna, McCandless Shawn E, Bird Lynne M, Garcia Aixa Gonzalez, Gambello Michael J, McWalter Kirsty, Schnur Rhonda E, An Jianghong, Jones Steven J M, Bhalla Sanjiv K, Pinz Hailey, Braddock Stephen R, Gibson William T

Abstract excerpt

The Polycomb repressive complex 2 is an epigenetic writer and recruiter with a role in transcriptional silencing. Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth). Imagawa et al. (2017) initially reported a singleton female with a Weaver-like...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Infant

Share to Infant, Newborn

Share to Intellectual Disability

Share to Neoplasm Proteins

Share to Polycomb Repressive Complex 2

Share to Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 31736240
DOI: 10.1002/ajmg.c.31748

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare SUZ12 variants commonly cause an overgrowth phenotype.PMID 31736240Read ↗

Novel SUZ12 mutations in Weaver-like syndrome.Semantic proximity Read ↗

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).Semantic proximity Read ↗

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.Semantic proximity Read ↗

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.Semantic proximity Read ↗

Epigenetic Causes of Overgrowth SyndromesSemantic proximity Read ↗

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver SyndromeSemantic proximity Read ↗

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.Semantic proximity Read ↗

Novel EED mutation in patient with Weaver syndrome.Semantic proximity Read ↗

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.Semantic proximity Read ↗

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.Semantic proximity Read ↗

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.