Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome
Author:
Affiliation:
1. Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
2. Division of Human Genetics, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Funder
NIH
AHA
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/27/11/1847/25087137/ddy078.pdf
Reference52 articles.
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2. Genomic disorders on 22q11;McDermid;Am. J. Hum. Genet,2002
3. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome;Edelmann;Am. J. Hum. Genet,1999
4. A common molecular basis for rearrangement disorders on chromosome 22q11;Edelmann;Hum. Mol. Genet,1999
5. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review;Shaikh;Genet. Med,2001
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