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https://doi.org/10.1136/jmedgenet-2019-106564
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Cite Journal: Journal of Medical Genetics |  Publication Date: May 21, 2021 |
 Citations: 9 |
BackgroundWe describe two unrelated patients who display similar clinical features including telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease.MethodsWe performed trio whole exome sequencing and functional analysis using in vitro...
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