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Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1
Alter, Svenja, Zimmer, Andreas David, Park, Misun, Gong, Jianli, Caliebe, Almuth, Fölster-Holst, Regina, Torrelo, Antonio, Colmenero, Isabel, Steinberg, Susan F, Fischer, JudithJournal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2019-106564
Date:
August, 2020
File:
PDF, 2.44 MB
2020