Article

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome

2025-08-26

Abstract excerpt

Weaver syndrome is a rare congenital overgrowth disorder caused by heterozygous pathogenic variants in EZH2, a gene encoding a histone methyltransferase essential for epigenetic regulation. We describe a 4-year-old Taiwanese female who exhibited classical features of Weaver syndrome, including macrosomia (height and weight >97th percentile), macrocephaly, hypertelorism, prominent forehead, and developmental del...

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Literature Corpus work: d802d818-5581-5054-8a5f-7ff4011f7916
DOI: 10.20944/preprints202508.1920.v1

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