35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

doi:10.1002/ajmg.a.70127

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Article

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

American journal of medical genetics. Part A - 1 Sept 2026

Li Mindy H, Coleman Deziree L, Hogan Kelsey, Luz Danielle, Bhandari Lindsay, Belnap Newell, Busa Tiffany, Coutton Charles, Dieterich Klaus, Gorokhova Svetlana, Hildebrandt Clara, Logan Rachel, Mariani Milena, Morleo Manuela, Nigro Vincenzo, Pappas John, Rabin Rachel, Schoch Kelly, Selicorni Angelo, Shashi Vandana, Spillmann Rebecca, Sullivan Jennifer, Tardy Charlotte, Vergano Samantha A Schrier, Grill Brock, Baranano Kristin

Abstract excerpt

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with...

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PMID: 41975654
DOI: 10.1002/ajmg.a.70127

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HUWE1

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