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Neurologic Manifestations of Angelman Syndrome

✍ Scribed by Thibert, Ronald L.; Larson, Anna M.; Hsieh, David T.; Raby, Annabel R.; Thiele, Elizabeth A.


Book ID
125420727
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
212 KB
Volume
48
Category
Article
ISSN
0887-8994

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Neurologic manifestations in 18q- syndro
✍ Miller, Geoffrey ;Mowrey, Philip N. ;Hopper, Kenneth D. ;Frankel, Carl A. ;Ladda πŸ“‚ Article πŸ“… 1990 πŸ› John Wiley and Sons 🌐 English βš– 608 KB

We report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q-syndrome. In addition, both have an action tremor which became apparent in childhood. The mother subsequently developed chorea and dysmetria in late adolescence. Magnetic resonance imaging of their