Article
Novel copy-number variants in a population-based investigation of classic heterotaxy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015
Rigler Shannon L, Kay Denise M, Sicko Robert J, Fan Ruzong, Liu Aiyi, Caggana Michele, Browne Marilyn L, Druschel Charlotte M, Romitti Paul A, Brody Lawrence C, Mills James L
Abstract excerpt
PURPOSE: Heterotaxy is a clinically and genetically heterogeneous disorder. We investigated whether screening cases restricted to a classic phenotype would result in the discovery of novel, potentially causal copy-number variants. METHODS: We identified 77 cases of classic heterotaxy from all live births in New York State during 1998-2005. DNA extracted from each infant's newborn dried blood spot was genotyped...
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