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...

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Opis bibliograficzny

Główni autorzy:	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
Język:	Inglês
Wydane:	MDPI AG 2025-11-01
Seria:	Children
Hasła przedmiotowe:	Weaver syndrome <i>EZH2</i> variant corpus callosum dysgenesis camptodactyly overgrowth syndrome
Dostęp online:	https://www.mdpi.com/2227-9067/12/11/1487
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