Article
Genetic counselling in a national referral centre for pulmonary hypertension.
The European respiratory journal - 1 Feb 2016
Girerd Barbara, Montani David, Jaïs Xavier, Eyries Mélanie, Yaici Azzedine, Sztrymf Benjamin, Savale Laurent, Parent Florence, Coulet Florence, Godinas Laurent, Lau Edmund M, Tamura Yuichi, Sitbon Olivier, Soubrier Florent, Simonneau Gérald, Humbert Marc
Abstract excerpt
Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17%...
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