Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparativ...

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Bibliographic Details
Main Author: Ho-Ming Luk
Format: Article
Language:English
Published: Wiley 2016-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2016/9790169
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