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Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK Experience

2020-10-28

Abstract excerpt

<title>Abstract</title> <p><bold>BACKGROUND</bold>Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment technologies are leading to unparalleled therapeutic advances; thus, it is more important than ever to molecularly confirm SD condit...

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Literature Corpus work
b089f216-9b47-59f1-aadc-897067222a9d
DOI
10.21203/rs.3.rs-96770/v1
Open publication

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Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK ExperienceDOI 10.21203/rs.3.rs-96770/v1
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