0000000000476710
AUTHOR
Nicolas Favrolt
showing 2 related works from this author
Pulmonary hypertension associated with ponatinib therapy
2016
IF 8.332; International audience; A case of pulmonary hypertension associated with ponatinib therapy in a chronic myelogenous leukaemia patient.
Familial pulmonary arterial hypertension by KDR heterozygous loss of function
2020
Beyond the major gene BMPR2, several new genes predisposing to PAH have been identified during the last decade. Recently, preliminary evidence of the involvement of the KDR gene was found in a large genetic association study.We prospectively analysed the KDR gene by targeted panel sequencing in a series of 311 PAH patients referred to a clinical molecular laboratory for genetic diagnosis of PAH.Two index cases with severe PAH from two different families were found to carry a loss-of-function mutation in the KDR gene. These two index cases were clinically characterised by low diffusing capacity for carbon monoxide adjusted for haemoglobin (DLCOc) and interstitial lung disease. In one family,…