{Reference Type}: Journal Article
{Title}: Pulmonary Arterial Hypertension in Neurofibromatosis Type 1: A Case with a Novel NF1 Gene Mutation.
{Author}: Yagi S;Kadota M;Bando R;Miyamoto R;Morino H;Kakutani A;Kubo Y;Ise T;Ueno R;Hara T;Kusunose K;Yamaguchi K;Yamada H;Soeki T;Wakatsuki T;Fukuda D;Sata M;
{Journal}: Intern Med
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jul 11
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.3856-24
{Abstract}: Neurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). However, the association between gene mutations in NF1 and the occurrence of PAH has not yet been elucidated. We herein report a case of isolated PAH in a 67-year-old woman with NF1, presumably caused by a novel heterozygous mutation, c.4485_4486delinsAT (p.Lys1496Ter), in the NF1 gene.