Notes in Angelmann Syndrome

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Published	10/08/2024	Prader Willi occurs due to loss of functional genes on chromosome 15 inherited from the {{c1::father}}. However, Angelman is caused due to a loss of f…
Published	10/08/2024	Angelman syndrome is a genetic condition caused by loss of function of the {{c1::UBE3A}} gene on chromosome 15.
Published	10/08/2024	Features of Angleman syndrome:Delayed development and learning disabilitySevere delay or absence of {{c1::speech development}}{{c1::Ataxia}} - cerebel…
Published	10/08/2024	TOM TIP: The novel features to remember and link with Angelman syndrome so you can spot it in your exams is the unusual {{c1::fascination with water}}…
Published	10/08/2024	Management of Angelman syndrome:No cure, MDT important!!{{c1::Parental}} education{{c1::Educational support}} at school{{c1::Physiotherapy}}{{c1::Occu…
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