Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.
Walsh LJ, Collins C, Ibrahim H, Kerins DM, Brady AP, O Connor TM.
J Med Case Rep. 2022 Mar 1;16(1):99. doi: 10.1186/s13256-022-03296-9.
PMID:35232468
Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.
Mathavan A, Mathavan A, Reddy R, Jones K, Eagan C, Alnuaimat H, Ataya A.
Pulm Circ. 2023 Oct 19;13(4):e12301. doi: 10.1002/pul2.12301. eCollection 2023 Oct.
PMID:37868718
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI).