New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
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DOI: 10.3389/fgene.2023.1165780
Abstract: Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is… read more here.
Keywords: tibial campomelia; aplasia; fibular aplasia; campomelia oligosyndactyly ... See more keywords