Article
Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.
Annales de genetique - 1 Jan 2000
Voelckel Marie-Antoinette, Girardot Lydie, Giusiano Bernard, Levy Nicolas, Philip Nicole
Abstract excerpt
Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised. It has been suggested that allelic variations at the haploid...
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