Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

@article{Moncla1999AngelmanSR,
  title={Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.},
  author={Anne Moncla and Perrine Malzac and M. O. Livet and Marie Antoinette Voelckel and Josette Mancini and J Ch Delarozi{\`e}re and Nicole Philip and Jean François Matt{\'e}i},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 7},
  pages={554-60}
}
Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to be a… CONTINUE READING
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