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References

1. Austin ED, Loyd JE, Phillips JA III. Heritable Pulmonary ArterialHypertension. 2002 Jul 18 [updated 2015 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1485/
2. Austin ED, Loyd JE. The genetics of pulmonary arterial hypertension. Circ Res.2014 Jun 20;115(1):189-202. doi: 10.1161/CIRCRESAHA.115.303404. Review.
3. Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, PhillipsJA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G,Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE,Trembath RC, Nichols WC. BMPR2 haploinsufficiency as the inherited molecularmechanism for primary pulmonary hypertension. Am J Hum Genet. 2001Jan;68(1):92-102.
4. Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, ChungWK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, HumbertM, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR,Grünig E. Pulmonary Arterial Hypertension: A Current Perspective on Establishedand Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904.
5. Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K,Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, EganJ, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC.Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet.2000 Oct;37(10):741-5.
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