Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children
Joshua Hodgson, Lidia Ruiz- Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak- Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. UptonUniversity of Cambridge. Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras. University of Alcalá, Madrid. University of Utah. Sheffield Children’s Hospital. Leeds […]
