Article
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
BMC medical genomics - 6 Jun 2021
Sabir Ataf H, Morley Elizabeth, Sheikh Jameela, Calder Alistair D, Beleza-Meireles Ana, Cheung Moira S, Cocca Alessandra, Jansson Mattias, Lillis Suzanne, Patel Yogen, Yau Shu, Hall Christine M, Offiah Amaka C, Irving Melita
Abstract excerpt
BACKGROUND: 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 conditions. Data on 'rates-of-molecular...
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