Discordant phenotypes in first cousins withUBE3Aframeshift mutation
Author:
Funder
FAPESP
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference33 articles.
1. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hipocampal and Purkinje neurons;Albrecht;Nature Genetics,1997
2. Puppet children;Angelman;Dev Med Child Neurol,1965
3. Classification system for malformations of cortical development-Update 2001;Barkovich;Neurology,2001
4. Disorders of neuronal migration;Barth;Can J Neurol Sci,1987
5. The EEG in early diagnosis of the Angelman (happy puppet) syndrome;Boyd;Eur J Pediatr,1988
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