| Literature DB >> 15455365 |
Matthew A Deardorff1, Melissa Maisenbacher, Elaine H Zackai.
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. (c) 2004 Wiley-Liss, Inc.Entities:
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Year: 2004 PMID： 15455365 DOI： 10.1002/ajmg.a.30032
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802