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Behavioral phenotype in the 9q subtelomeric deletion syndrome: A report about two adult patients

✍ Scribed by Willem M.A. Verhoeven; Tjitske Kleefstra; Jos I.M. Egger

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 97 KB
Volume: 153B
Category: Article
ISSN: 1552-4841
DOI: 10.1002/ajmg.b.31015

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## Abstract Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the __EHMT1__ gene. Both a single mutation and 9q34 microdeletions encompassing the entire gene can be responsible for this syndrome which is characterized by i