TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
- DOI
- 10.1038/s41431-021-00948-0
- Published
- 2021-08-30
- Container
- European Journal of Human Genetics
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-021-00948-0,
title = {TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility},
author = {Aafke Engwerda and Erika K. S. M. Leenders and Barbara Frentz and Paulien A. Terhal and Katharina Löhner and Bert B. A. de Vries and Trijnie Dijkhuizen and Yvonne J. Vos and Tuula Rinne and Maarten P. van den Berg and Marc T. R. Roofthooft and Patrick Deelen and Conny M. A. van Ravenswaaij-Arts and Wilhelmina S. Kerstjens-Frederikse},
year = {2021},
journal = {European Journal of Human Genetics},
doi = {10.1038/s41431-021-00948-0},
url = {https://doi.org/10.1038/s41431-021-00948-0}
}RIS
TY - JOUR TI - TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility AU - Aafke Engwerda AU - Erika K. S. M. Leenders AU - Barbara Frentz AU - Paulien A. Terhal AU - Katharina Löhner AU - Bert B. A. de Vries AU - Trijnie Dijkhuizen AU - Yvonne J. Vos AU - Tuula Rinne AU - Maarten P. van den Berg AU - Marc T. R. Roofthooft AU - Patrick Deelen AU - Conny M. A. van Ravenswaaij-Arts AU - Wilhelmina S. Kerstjens-Frederikse PY - 2021 JO - European Journal of Human Genetics DO - 10.1038/s41431-021-00948-0 UR - https://doi.org/10.1038/s41431-021-00948-0 ER -
APA
Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Löhner, K., Vries, B. B. A. D., Dijkhuizen, T., Vos, Y. J., Rinne, T., Berg, M. P. V. D., Roofthooft, M. T. R., Deelen, P., Ravenswaaij-Arts, C. M. A. V., & Kerstjens-Frederikse, W. S. (2021). TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. European Journal of Human Genetics. https://doi.org/10.1038/s41431-021-00948-0
Source records
- crossref · retrieved 2026-09-25T11:36:52.270Z