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Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes

✍ Scribed by Pacheco, Theresa R. ;Oreskovich, Nicole ;Fain, Pamela


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
72 KB
Volume
127A
Category
Article
ISSN
0148-7299

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The causal heterogeneity of Angelman syndrome (AS) makes providing information regarding recurrence risk both important and challenging, and may have a dramatic impact on reproductive decision-making for the nuclear and extended family. Most cases of AS result from typical large de novo deletions of