Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference25 articles.
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2. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations and genomic instability: an update and literature review;Shaikh;Genet. Med.,2001
3. TBX1 haploinsufficiency in the DiGeorge syndrome causes aortic arch defects in mice;Lindsay;Nature,2001
4. Microduplication and triplication of 22q11.2: a highly variable syndrome;Yobb;Am. J. Hum. Genet.,2005
5. Challenges in clinical interpretation of microduplications detected by array CGH analysis;Stankiewicz;Am. J. Med. Genet. Part A,2010
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