Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability

Syndromic X-linked intellectual disability associated with pathogenic variants in HUWE1 includes moderate to severe intellectual disability, dysmorphic features, and epilepsy, and is characterized by clinical variability, especially among carrier females. We present three unrelated symptomatic patie...

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Detalhes bibliográficos

Principais autores:	Jędrzejowska M, Madej-Pilarczyk A, Babameto-Laku A, Halat-Wolska P, Młynek M, Gos M, Landowska A, Chrzanowska K, Ciara E
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Sciendo 2026-05-01
coleção:	Balkan Journal of Medical Genetics
Assuntos:	huwe1 gene intellectual disability x-chromosome inactivation
Acesso em linha:	https://doi.org/10.2478/bjmg-2025-00020
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