Article
Pulmonary hypertension in patients with neurofibromatosis type I.
Medicine - 1 May 2011
Montani David, Coulet Florence, Girerd Barbara, Eyries Mélanie, Bergot Emmanuel, Mal Hervé, Biondi Giuseppina, Dromer Claire, Hugues Thomas, Marquette Charles, O'Connell Caroline, O'Callaghan Dermot S, Savale Laurent, Jaïs Xavier, Dorfmüller Peter, Begueret Hugues, Bertoletti Laurent, Sitbon Olivier, Bellanné-Chantelot Christine, Zalcman Gérard, Simonneau Gérald, Humbert Marc, Soubrier Florent
Abstract excerpt
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which codes for tumor suppressor neurofibromin. NF1 is transmitted as an autosomal dominant and fully penetrant trait with no sex predominance. Precapillary pulmonary hypertension (PH) is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course...
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