First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Prapa, M., Lago-Docampo, M., Swietlik, E. M., Montani, D., Eyries, M., Humbert, M., Welch, C. L., Chung, W. K., Berger, R. M. F., Bogaard, H. J., Danhaive, O., Escribano-Subías, P., Gall, H., Girerd, B., Hernandez-Gonzalez, I., Holden, S., Hunt, D., Jansen, S. M. A., … Kerstjens-Frederikse, W. (2022). First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American Journal of Respiratory and Critical Care Medicine, 206(12), 1522–1533. https://doi.org/10.1164/rccm.202203-0485oc
Authors:
Matina Prapa
Mauro Lago-Docampo
Emilia M Swietlik
David Montani
Mélanie Eyries
Marc Humbert
Carrie L Welch
Wendy K Chung
Rolf M F Berger
Harm Jan Bogaard
Olivier Danhaive
Pilar Escribano-Subías
Henning Gall
Barbara Girerd
Ignacio Hernandez-Gonzalez
Simon Holden
David Hunt
Samara M A Jansen
Wilhelmina Kerstjens-Frederikse
David G Kiely
Pablo Lapunzina
John McDermott
Shahin Moledina
Joanna Pepke-Zaba
Gary J Polwarth
Gwen Schotte
Jair Tenorio-Castaño
A A Roger Thompson
John Wharton
Stephen J Wort
Karyn Megy
Rutendo Mapeta
Carmen M Treacy
Jennifer M Martin
Wei Li
Andrew J Swift
Paul D Upton
Nicholas W Morrell
Stefan Gräf
Diana Valverde
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Gain of Function Mutation (MeSH)
Lung Diseases (MeSH)
Author Keywords:
pulmonary arterial hypertension
tbx4
interstitial lung disease
lung developmental disease
gain-of-function
elink
Publication Type:
Article
Unique ID:
10.1164/rccm.202203-0485oc
PMID:
35852389
DOI:
10.1164/rccm.202203-0485oc
Journal:
American Journal of Respiratory and Critical Care Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: