Article
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.
BMC genetics - 14 Feb 2014
Younkin Samuel G, Scharpf Robert B, Schwender Holger, Parker Margaret M, Scott Alan F, Marazita Mary L, Beaty Terri H, Ruczinski Ingo
Abstract excerpt
BACKGROUND: Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de...
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