Chromosome copy number variants in fetuses with syndromic malformations
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DOI: 10.1002/bdr2.1054
Abstract: Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be… read more here.
Keywords: copy number; syndromic malformations; fetuses syndromic; chromosome copy ... See more keywords