TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

W.S. Kerstjens-Frederikse; E.M.H.F. Bongers; M.T.R. Roofthooft; E.M. Leter; J.M. Douwes; A . van Dijk; A. Vonk-Noordegraaf; K.K. Dijk-Bos; L.H. Hoefsloot; E.S. Hoendermis; J.J.P. Gille; B. Sikkema-Raddatz; R.M.W. Hofstra; R.M.F. Berger

doi:https://doi.org/10.1136/jmedgenet-2012-101152

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

W.S. Kerstjens-Frederikse, E.M.H.F. Bongers, M.T.R. Roofthooft, E.M. Leter, J.M. Douwes, A . van Dijk, A. Vonk-Noordegraaf, K.K. Dijk-Bos, L.H. Hoefsloot, E.S. Hoendermis, J.J.P. Gille, B. Sikkema-Raddatz, R.M.W. Hofstra, R.M.F. Berger

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

144 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	500-506
Journal	Journal of medical genetics
Volume	50
Issue number	8
DOIs	https://doi.org/10.1136/jmedgenet-2012-101152
Publication status	Published - 2013

Access to Document

https://doi.org/10.1136/jmedgenet-2012-101152

Cite this

Kerstjens-Frederikse, W. S., Bongers, E. M. H. F., Roofthooft, M. T. R., Leter, E. M., Douwes, J. M., van Dijk, A. ., Vonk-Noordegraaf, A., Dijk-Bos, K. K., Hoefsloot, L. H., Hoendermis, E. S., Gille, J. J. P., Sikkema-Raddatz, B., Hofstra, R. M. W., & Berger, R. M. F. (2013). TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Journal of medical genetics, 50(8), 500-506. https://doi.org/10.1136/jmedgenet-2012-101152

@article{8613bce574ab4ea3aa9f82ea93840164,

title = "TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension",

author = "W.S. Kerstjens-Frederikse and E.M.H.F. Bongers and M.T.R. Roofthooft and E.M. Leter and J.M. Douwes and {van Dijk}, {A .} and A. Vonk-Noordegraaf and K.K. Dijk-Bos and L.H. Hoefsloot and E.S. Hoendermis and J.J.P. Gille and B. Sikkema-Raddatz and R.M.W. Hofstra and R.M.F. Berger",

year = "2013",

doi = "https://doi.org/10.1136/jmedgenet-2012-101152",

language = "Undefined/Unknown",

volume = "50",

pages = "500--506",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "8",

}

Kerstjens-Frederikse, WS, Bongers, EMHF, Roofthooft, MTR, Leter, EM, Douwes, JM, van Dijk, A, Vonk-Noordegraaf, A, Dijk-Bos, KK, Hoefsloot, LH, Hoendermis, ES, Gille, JJP, Sikkema-Raddatz, B, Hofstra, RMW & Berger, RMF 2013, 'TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension', Journal of medical genetics, vol. 50, no. 8, pp. 500-506. https://doi.org/10.1136/jmedgenet-2012-101152

TY - JOUR

T1 - TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

AU - Kerstjens-Frederikse, W.S.

AU - Bongers, E.M.H.F.

AU - Roofthooft, M.T.R.

AU - Leter, E.M.

AU - Douwes, J.M.

AU - van Dijk, A .

AU - Vonk-Noordegraaf, A.

AU - Dijk-Bos, K.K.

AU - Hoefsloot, L.H.

AU - Hoendermis, E.S.

AU - Gille, J.J.P.

AU - Sikkema-Raddatz, B.

AU - Hofstra, R.M.W.

AU - Berger, R.M.F.

PY - 2013

Y1 - 2013

U2 - https://doi.org/10.1136/jmedgenet-2012-101152

DO - https://doi.org/10.1136/jmedgenet-2012-101152

M3 - Article

C2 - 23592887

SN - 0022-2593

VL - 50

SP - 500

EP - 506

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 8

ER -