TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Aafke Engwerda, Erika K. S. M. Leenders, Barbara Frentz, Paulien A. Terhal, Katharina Lohner, Bert B. A. de Vries, Trijnie Dijkhuizen, Yvonne J. Vos, Tuula Rinne, Maarten P. van den Berg, Marc T. R. Roofthooft, Patrick Deelen, Conny M. A. Van Ravenswaaij-Arts, Wilhelmina S. Kerstjens-Frederikse*

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

19 Citations (Scopus)
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Biochemistry, Genetics and Molecular Biology

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