Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
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DOI: 10.3390/genes14010082
Abstract: Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investigation of four familial… read more here.
Keywords: discordant phenotypes; apparently balanced; phenotypes familial; whole exome ... See more keywords