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Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
BACKGROUND: Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or in...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3846355/ https://ncbi.nlm.nih.gov/pubmed/24011290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-35 |
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