Article
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Orphanet journal of rare diseases - 14 Jun 2015
Probst F J, James R A, Burrage L C, Rosenfeld J A, Bohan T P, Ward Melver C H, Magoulas P, Austin E, Franklin A I A, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont J W, Ware S M, Shaw C, Cheung S W, Lalani S R
Abstract excerpt
BACKGROUND: Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual with a de novo 17q25.3 deletion from a study of 714 individuals with CVM. METHODS: To understand the contribution of this locus to cardiac malformations, we reviewed the data on 60,000 samples...
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