Rare genetic condition keeps him smiling, laughing and hugging others
Lucas Oon has Angelman syndrome, which is characterised by a happy demeanour and an easily excitable nature. Read more at ...
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Colin Farrell’s son James: What is Angelman syndrome?
Although some causes of Angelman syndrome are not known, the most common cause is when the gene known as UBE3A is either missing or not working properly. A gene is a single unit of genetic ...
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Angelman syndrome: A disorder that stops people walking and speaking
The disorder principally affects the central nervous system, meaning the brain and spinal cord, and it's caused by mutations in the UBE3A gene. This gene carries instructions for a protein needed ...
Nature4y
Genetic mechanisms leading to Angelman syndrome
in the UBE3A gene inherited from the mother. The condition can also be caused by inheritance of two normal copies of UBE3A from the father, with no copy inherited from the mother. Other AS ...
pharmaphorum7d
Ionis plans phase 3 for Biogen-rejected Angelman drug
Angelman syndrome is caused by several genetic mutations, but the most significant is loss of function in the maternally inherited form of the UBE3A gene, which leads to complications in the ...