Article
Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease.
Chest - 1 Feb 2018
Chang Sung-A, Song Ju Sun, Park Taek Kyu, Yang Jeong Hoon, Kwon Woo Chan, Kim So Ree, Kim Sung Mok, Cha Jihoon, Jang Shin Yi, Cho Young Seok, Kim Tae Jung, Bang Oh Young, Song Jin Young, Ki Chang-Seok, Kim Duk-Kyung
Abstract excerpt
BACKGROUND: Peripheral pulmonary arterial stenosis (PPAS) in childhood is frequently associated with other syndromes; however, PPAS in adolescents and adults is rare and its etiology is not well understood. We report the clinical characteristics of adult-onset nonsyndromic PPAS associated with the p.Arg4810Lys variant of the RNF213 gene. METHODS: We recently encountered an index case of severe pulmonary...
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