A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice

Clinical chemistry(2023)

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Journal Article Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice Get access Timothy Carl Wood Timothy Carl Wood Biochemical Genetics Laboratory, Children’s Hospital of Colorado/University of Colorado Anschutz Medical Campus, Aurora, CO, USA Address correspondence to this author at: Biochemical Genetics Laboratory, Children’s Hospital of Colorado/University of Colorado Anschutz Medical Campus, 13123 East 16th Ave., Box 120, Aurora, CO 80045, USA. Fax 7204787071; e-mail timothy.wood@childrenscolorado.org. Search for other works by this author on: Oxford Academic Google Scholar Clinical Chemistry, Volume 69, Issue 1, January 2023, Page 22, https://doi.org/10.1093/clinchem/hvac189 Published: 04 January 2023 Article history Received: 25 October 2022 Accepted: 09 November 2022 Published: 04 January 2023
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ARSB,next-generation sequencing,compound heterozygous variants,MPS type VI
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