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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Autors principals:	Jędrzejowska M, Madej-Pilarczyk A, Babameto-Laku A, Halat-Wolska P, Młynek M, Gos M, Landowska A, Chrzanowska K, Ciara E
Format:	Artigo
Idioma:	Inglês
Publicat:	Sciendo 2026-05-01
Col·lecció:	Balkan Journal of Medical Genetics
Matèries:	huwe1 gene intellectual disability x-chromosome inactivation
Accés en línia:	https://doi.org/10.2478/bjmg-2025-00020
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