Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.

doi:10.1183/13993003.01634-2023

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Article

Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.

The European respiratory journal - 1 Apr 2024

Grynblat Julien, Bogaard Harm Jan, Eyries Mélanie, Meyrignac Olivier, Savale Laurent, Jaïs Xavier, Ghigna Maria-Rosa, Celant Lucas, Meijboom Lilian, Houweling Arjan C, Levy Marilyne, Antigny Fabrice, Chaouat Ari, Cottin Vincent, Guignabert Christophe, Coulet Florence, Sitbon Olivier, Bonnet Damien, Humbert Marc, Montani David

Abstract excerpt

BACKGROUND: Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by GDF2 and BMP10, respectively, play a pivotal role in pulmonary vascular regulation. GDF2 variants have been reported in pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT). However, the phenotype of GDF2 and BMP10 carriers remains largely unexplored. METHODS: We report the characteristics and outcomes...

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PMID: 38514094
DOI: 10.1183/13993003.01634-2023

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