The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3
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DOI: 10.3390/genes14051016
Abstract: (1) Background: Optical genome mapping (OGM) is a novel approach to identifying genomic structural variations with high accuracy and resolution. We report a proband with severe short stature caused by 46, XY, der (16) ins… read more here.
Keywords: short stature; duplication 15q14q21; ogm; duplication ... See more keywords