A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Abstract Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a characteristic behavioral pattern. We identified a...

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Autores principales:	Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2020-11-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	Angelman syndrome E3 protein ubiquitin ligase intellectual disability missense variant UBE3A
Acceso en línea:	https://doi.org/10.1002/mgg3.1481
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