Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
European Journal Of Human Genetics : Ejhg
Racacho, Lemuel L; Byrnes, Ashley M AM; MacDonald, Heather H; Dranse, Helen J HJ; Nikkel, Sarah M SM; Allanson, Judith J; Rosser, Elisabeth E; Underhill, T Michael TM; Bulman, Dennis E DE