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3. 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; Ruiz-Llorente L; McDonald J; Quarrell O; Ugonna K; Bentham J; Mason R; Martin J; Moore D; Bergstrom K; Bayrak-Toydemir P; Wooderchak-Donahue W; Morrell NW; Condliffe R; Bernabeu C; Upton PD Mol Genet Genomic Med; 2021 Dec; 9(12):e1685. PubMed ID: 33834622 [TBL] [Abstract][Full Text] [Related]
4. A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute? Am J Med Genet A; ; . PubMed ID: 36259599 [TBL] [Abstract][Full Text] [Related]