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Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

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Published in 2018 at "Genetics in Medicine"

DOI: 10.1038/gim.2018.19

Abstract: To the Editor: We read with great interest the article “Noncoding Copy-Number Variations Are Associated With Congenital Limb Malformation,” by Flöttmann et al.1 Their work represents the first large-scale study assessing copynumber variants (CNVs) in… read more here.

Keywords: hoxd cluster; limb; affecting regulatory; microdeletion ... See more keywords