TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy 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

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy 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

Research output: Contribution to journal › Meeting Abstract › Academic

Original language	English
Pages (from-to)	366-366
Number of pages	1
Journal	European Journal of Human Genetics
Volume	30
Issue number	SUPPL 1
Publication status	Published - Apr-2022

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Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Lohner, K., De Vries, B. B. A., Dijkhuizen, T., Vos, Y. J., Rinne, T., Van den Berg, M. P., Roofthooft, M. T. R., Deelen, P., van Ravenswaaij-Arts, C. M. A., & Kerstjens-Frederikse, W. S. (2022). TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility. European Journal of Human Genetics, 30(SUPPL 1), 366-366.

@article{9abc84090b28424bb3f6b49a66497666,

title = "TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility",

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

year = "2022",

month = apr,

language = "English",

volume = "30",

pages = "366--366",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "SUPPL 1",

}

Engwerda, A, Leenders, EKSM, Frentz, B, Terhal, PA, Lohner, K, De Vries, BBA, Dijkhuizen, T, Vos, YJ, Rinne, T, Van den Berg, MP , Roofthooft, MTR , Deelen, P , van Ravenswaaij-Arts, CMA & Kerstjens-Frederikse, WS 2022, 'TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 366-366.

TY - JOUR

T1 - TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

AU - Engwerda, Aafke

AU - Leenders, Erika K. S. M.

AU - Frentz, Barbara

AU - Terhal, Paulien A.

AU - Lohner, Katharina

AU - De Vries, Bert B. A.

AU - Dijkhuizen, Trijnie

AU - Vos, Yvonne J.

AU - Rinne, Tuula

AU - Van den Berg, Maarten P.

AU - Roofthooft, Marc T. R.

AU - Deelen, Patrick

AU - van Ravenswaaij-Arts, Conny M. A.

AU - Kerstjens-Frederikse, Wilhelmina S.

PY - 2022/4

Y1 - 2022/4

M3 - Meeting Abstract

SN - 1018-4813

VL - 30

SP - 366

EP - 366

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - SUPPL 1

ER -