Article

Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal Dysplasia

2021-08-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical care, guide future medical management and treatment, and inform assessment of risk for familial recurrence. The molecular d...

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Literature Corpus work: 313e5aaa-f629-5791-b81a-587856f55226
DOI: 10.21203/rs.3.rs-726678/v1

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