Multiplex targeted highâthroughput sequencing in a series of 352 patients with congenital limb malformations
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DOI: 10.1002/humu.23912
Abstract: Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular diagnosis. In the… read more here.
Keywords: limb malformations; congenital limb; sequencing series; throughput sequencing ... See more keywords