Associated Papers
A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?
Upton P et al.
American Journal of Medical Genetics. Part A, 2023
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.
Hodgson J et al.
Molecular Genetics & Genomic Medicine, 2021
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