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Article

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Clinical genetics - 1 Apr 2023

Imagawa Eri, Seyama Rie, Aoi Hiromi, Uchiyama Yuri, Marcarini Bruno Guimaraes, Furquim Isabel, Honjo Rachel Sayuri, Bertola Debora Romeo, Kim Chong Ae, Matsumoto Naomichi

Abstract excerpt

The SUZ12 gene encodes a subunit of polycomb repressive complex 2 (PRC2) that is essential for development by silencing the expression of multiple genes. Germline heterozygous variants in SUZ12 have been found in Imagawa-Matsumoto syndrome (IMMAS) characterized by overgrowth and multiple dysmorphic features. Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver...

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PMID: 36645289
DOI: 10.1111/cge.14296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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