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

Weaver syndrome is a rare congenital overgrowth disorder caused by pathogenic <i>EZH2</i> variants. This study reports a novel <i>EZH2</i> variant associated with atypical manifestations, including severe bilateral camptodactyly and complex brain malformations. A 4-year-old Taiwanese female exhibite...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Hsiang-Yu Lin, Shuan-Pei Lin
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2025-11-01
Schriftenreihe:Children
Schlagworte:
Weaver syndrome
<i>EZH2</i> variant
corpus callosum dysgenesis
camptodactyly
overgrowth syndrome
Online-Zugang:https://www.mdpi.com/2227-9067/12/11/1487
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