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- W2345818935 abstract "Quantum advances have occurred in the field of human genetics in the six decades since Watson and Crick expressed their “wish to suggest a structure for the salt of deoxyribose nucleic acid.” These culminated with the human genome project, which has opened up myriad possibilities, including that of individualized genetic medicine , the ability to deliver medical advice, management, and therapy tailored to an individual's genetic blueprint. Advances in genetic diagnostic capabilities have been rapid, to the point where the genome can be sequenced for several thousand dollars. Crucially, it has facilitated the identification of targets for “precision” treatments to combat genetic diseases at their source. This manuscript will review the innovative, pathogenesis‐based therapies that are revolutionizing management of skeletal dysplasias, giving patients and families new options and outcomes. © 2016 Wiley Periodicals, Inc." @default.
- W2345818935 created "2016-06-24" @default.
- W2345818935 creator A5000857707 @default.
- W2345818935 creator A5008134048 @default.
- W2345818935 date "2016-05-07" @default.
- W2345818935 modified "2023-09-27" @default.
- W2345818935 title "Emerging targeted drug therapies in skeletal dysplasias" @default.
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- W2345818935 doi "https://doi.org/10.1002/ajmg.a.37734" @default.
- W2345818935 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27155200" @default.
- W2345818935 hasPublicationYear "2016" @default.
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