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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

✍ Scribed by Shaw-Smith, Charles; Pittman, Alan M; Willatt, Lionel; Martin, Howard; Rickman, Lisa; Gribble, Susan; Curley, Rebecca; Cumming, Sally; Dunn, Carolyn; Kalaitzopoulos, Dimitrios

Book ID: 109919413
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 307 KB
Volume: 38
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1858

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✍ Lynn Dukes-Rimsky; Gregory F. Guzauskas; Kenton R. Holden; Rachel Griggs; Sydney 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 906 KB

## Abstract Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving