Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion
- 28 September 2004
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 130A (4) , 393-394
- https://doi.org/10.1002/ajmg.a.30032
Abstract
Sotos syndrome, a disorder with macrocephaly, mental delay, and facial anomalies, has been noted to have an increased risk of neoplasia. Here, we report a patient with a microdeletion in nuclear receptor SET‐domain‐containing protein (NSD1) and a previously undescribed intracranial ganglioglioma.Keywords
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