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...
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: | |
Online Access: | https://doi.org/10.1186/s12920-021-00993-0 |
Similar Items
-
The Role and Challenges of Exome Sequencing in Studies of Human Diseases
by: Zuoheng eWang, et al.
Published: (2013-08-01) -
Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
by: Yury A. Barbitoff, et al.
Published: (2019-11-01) -
Monogenic Lupus: A Developing Paradigm of Disease
by: Jessie M. Alperin, et al.
Published: (2018-10-01) -
Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling
by: Raykova, Doroteya
Published: (2015) -
Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation
by: Caroline Lenfant, et al.
Published: (2017-11-01)