Definición de Angelman syndrome en inglés:
A rare congenital disorder characterized by mental disability and a tendency to jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.
- In addition, a defective E6 - AP is implicated in Angelman's syndrome.
- Prader-Willi syndrome and Angelman syndrome are distinct disorders that are caused by the loss of the function of genes located on the long arm of chromosome 15.
- Pat and his wife, Eva, have a 22-year-old daughter, Lisa, who has a profound disability called Angelman syndrome.
1970s: named after Harold Angelman ( 1915–96), the British doctor who described the condition.
Definición de Angelman syndrome en:
- Inglés de EE.UU. dictionary
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