Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: a case report

• Main Authors: Murathan Küçük (Author), Can Ramazan Öncel (Author), Mustafa Uçar (Author), Aytül Belgi Yıldırım (Author)
• Formato: Libro
• Publicado: KARE Publishing, 2017-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may compl...