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

Onderzoeksoutput › Academic

Originele taal-2	English
Pagina's (van-tot)	366-366
Aantal pagina's	1
Tijdschrift	European Journal of Human Genetics
Volume	30
Nummer van het tijdschrift	SUPPL 1
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, nr. SUPPL 1, blz. 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 -