Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 130A, Issue 4, Pages 393-394Publisher
WILEY
DOI: 10.1002/ajmg.a.30032
Keywords
overgrowth; neoplasms; nuclear receptor SET-domain-containing protein; microdeletion
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ySotos 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. (C) 2004 Wiley-Liss, Inc.
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