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

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 novel UB...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667313/
https://ncbi.nlm.nih.gov/pubmed/32889787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1481
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