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Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion
Author(s) -
Deardorff Matthew A.,
Maisenbacher Melissa,
Zackai Elaine H.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30032
Subject(s) - sotos syndrome , macrocephaly , ganglioglioma , medicine , pediatrics , psychiatry , epilepsy
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 n uclear receptor S ET‐ d omain‐containing protein ( NSD1 ) and a previously undescribed intracranial ganglioglioma. © 2004 Wiley‐Liss, Inc.