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
Perinatal outcomes of infants with congenital limb malformations: an observational study from a tertiary referral center in Central Europe
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pregnancy and Childbirth"
DOI: 10.1186/s12884-020-2720-x
Abstract: Background Congenital limb malformations are rare, and their perinatal outcomes are not well described. This study analyzed the perinatal outcomes of infants with congenital limb malformations. Methods All infants with congenital limb malformations who underwent… read more here.
Keywords: delivery; limb malformations; perinatal outcomes; congenital limb ... See more keywords