Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein tùype II receptor.
1University of Leicester, Leicester, United Kingdom; 2Children's Hospital Medical Center, Cincinnati, OH, USA; 3Royal Brompton and Harefield Hospitals, Harefield, United Kingdom; 4Royal Freeman Hospital, Newcastle, United Kingdom; 5Papworth Hospital, Cambridge, United Kingdom; 6Vanderbilt University Medical Center, Nashville, TN, USA
J
J
Thomson
R
R
Machado
M
M
Pauciulo
N
N
Morgan
M
M
Yacoub
P
P
Corris
K
K
McNeil
J
J
Loyd
W
W
Nichols
R
R
Trembath