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Ophthalmic manifestations of Angelman syndrome

✍ Scribed by May Ling Mah; David K. Wallace; Cynthia M. Powell


Book ID
117847113
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
64 KB
Volume
4
Category
Article
ISSN
1528-3933

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Undiagnosed institutionalised patients were reviewed in an attempt to identify those with Angelman syndrome (AS). The aim was to test these patients for deletion of chromosome 15(q11-13) and to describe the adult phenotype. The selection criteria included severe intellectual disability, ataxic or hy