First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
TBX4综合征首个基因型-表型研究:功能获得性突变导致肺部疾病
期刊:American Journal of Respiratory and Critical Care Medicine
影响因子:19.4
doi:10.1164/rccm.202203-0485OC
Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M; Montani, David; Eyries, Mélanie; Humbert, Marc; Welch, Carrie L; Chung, Wendy K; Berger, Rolf M F; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subías, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara M A; Kerstjens-Frederikse, Wilhelmina; Kiely, David G; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J; Schotte, Gwen; Tenorio-Castaño, Jair; Thompson, A A Roger; Wharton, John; Wort, Stephen J; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M; Martin, Jennifer M; Li, Wei; Swift, Andrew J; Upton, Paul D; Morrell, Nicholas W; Gräf, Stefan; Valverde, Diana