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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

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 a...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182909/ https://www.ncbi.nlm.nih.gov/pubmed/34092239 http://dx.doi.org/10.1186/s12920-021-00993-0

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