Associated Papers
Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.
Oliver O et al.
Journal of Clinical Medicine, 2025
Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.
Chomette L et al.
American Journal of Medical Genetics. Part A, 2023
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
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S et al.
American Journal of Medical Genetics. Part A, 2022
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