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This lack of specificity in syndrome diagnoses may give rise to a lack of clarity in selection of diagnostic and management techniques, as I have discussed in a previous blog

[DOI] [PubMed] [Google Scholar] Liu J.-D., Liu W.-B., Zhang D.-D., Xu C.-Y., Zhang C.-Y., Zheng X.-C., et al

This procedure may unfortunately result in significant tissue loss, sometimes requiring amputation

And I want to say these arent just data points, they are a call to action for patients and organizations, like GHLF

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

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