Publication
First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
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
American Journal of Respiratory and Critical Care Medicine, December 2022, American Thoracic Society
DOI: 10.1164/rccm.202203-0485oc