| Literature DB >> 10398271 |
R M Pauli1, S Scheib-Wixted, L Cripe, S Izumo, G S Sekhon.
Abstract
We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX. Copyright 1999 Wiley-Liss, Inc.Entities:
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Year: 1999 PMID： 10398271
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299