The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung

Meindina G Haarman¹, Wilhelmina S Kerstjens-Frederikse², Rolf M F Berger³

Affiliations

¹ Center for Congenital Heart Diseases, Dept of Pediatric Cardiology, Beatrix Children's Hospital, National Referral Center for Pediatric Pulmonary Hypertension, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
² Dept of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
³ Center for Congenital Heart Diseases, Dept of Pediatric Cardiology, Beatrix Children's Hospital, National Referral Center for Pediatric Pulmonary Hypertension, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands r.m.f.berger@umcg.nl.

PMID: 31439725
DOI: 10.1183/13993003.01504-2019

Free article

Editorial

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung

Meindina G Haarman et al. Eur Respir J. 2019.

Free article

. 2019 Aug 22;54(2):1901504.

doi: 10.1183/13993003.01504-2019. Print 2019 Aug.

Authors

Meindina G Haarman¹, Wilhelmina S Kerstjens-Frederikse², Rolf M F Berger³

Affiliations

¹ Center for Congenital Heart Diseases, Dept of Pediatric Cardiology, Beatrix Children's Hospital, National Referral Center for Pediatric Pulmonary Hypertension, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
² Dept of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
³ Center for Congenital Heart Diseases, Dept of Pediatric Cardiology, Beatrix Children's Hospital, National Referral Center for Pediatric Pulmonary Hypertension, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands r.m.f.berger@umcg.nl.

PMID: 31439725
DOI: 10.1183/13993003.01504-2019

No abstract available

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Conflict of interest statement

Conflict of interest: M.G. Haarman has nothing to disclose. Conflict of interest: W.S. Kerstjens-Frederikse has nothing to disclose. Conflict of interest: R.M.F. Berger has nothing to disclose.

Comment on

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O. Galambos C, et al. Eur Respir J. 2019 Aug 22;54(2):1801965. doi: 10.1183/13993003.01965-2018. Print 2019 Aug. Eur Respir J. 2019. PMID: 31151956
T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease.
Maurac A, Lardenois É, Eyries M, Ghigna MR, Petit I, Montani D, Guillaumot A, Caput B, Chabot F, Chaouat A. Maurac A, et al. Eur Respir J. 2019 Aug 22;54(2):1900388. doi: 10.1183/13993003.00388-2019. Print 2019 Aug. Eur Respir J. 2019. PMID: 31164435 No abstract available.

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The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung

Affiliations

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung

Authors

Affiliations

Conflict of interest statement

Comment on

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LinkOut - more resources

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Medical