Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Abstract 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 thera...

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Main Authors: Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Mendelian
Molecular genetic test
Monogenic
Next-generation sequencing
Skeletal dysplasia
Exome sequencing
Online Access:https://doi.org/10.1186/s12920-021-00993-0

Internet

https://doi.org/10.1186/s12920-021-00993-0

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