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Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: A case report.
Turk Kardiyol Dern Ars. 2017 Jul;45(5):458-461
Authors: Küçük M, Öncel CR, Uçar M, Yıldırım AB
Abstract
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 complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.
PMID: 28694401 [PubMed - indexed for MEDLINE]
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