Article
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
The European respiratory journal - 1 Oct 2024
Tóth Eszter N, Celant Lucas R, Niglas Marili, Jansen Samara, Tramper Jelco, Baxan Nicoleta, Ashek Ali, Wessels Jeroen N, Marcus J Tim, Meijboom Lilian J, Houweling Arjan C, Nossent Esther J, Aman Jurjan, Grynblat Julien, Perros Frédéric, Montani David, Vonk Noordegraaf Anton, Zhao Lan, de Man Frances S, Bogaard Harm Jan
Abstract excerpt
INTRODUCTION: Pathogenic variants in the gene encoding for BMPR2 are a major genetic risk factor for heritable pulmonary arterial hypertension. Owing to incomplete penetrance, deep phenotyping of unaffected carriers of a pathogenic BMPR2 variant through multimodality screening may aid in early diagnosis and identify susceptibility traits for future development of pulmonary arterial hypertension. METHODS: 28...
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