Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Eichstaedt CA, Saßmannshausen Z, Shaukat M, Cao D, Xanthouli P, Gall H, Sommer N, Ghofrani HA, Seyfarth HJ, Lerche M, Halank M, Kleymann J, Benjamin N, Harutyunova S, Egenlauf B, Milger K, Rosenkranz S, Ewert R, Klose H, Hoeper MM, Olsson KM, Lankeit M, Lange TJ, Hinderhofer K, Grünig E.
Eichstaedt CA, et al.
Respir Res. 2022 Mar 27;23(1):74. doi: 10.1186/s12931-022-01987-x.
Respir Res. 2022.
PMID: 35346192
Free PMC article.
For the first year the panel contained thirteen PAH genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, KLF2, SMAD4, SMAD9 and TBX4. These were extended by the three genes ATP13A3, AQP1 and SOX17 from March 2018 onwards following the genes' discovery. ...
For the first year the panel contained thirteen PAH genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, KLF2, SMAD4 …