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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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| Udgivet i: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2020
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| Fag: | |
| Online adgang: | 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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