Cargando…
A histopathological report of a 16-year-old male with peripheral pulmonary artery stenosis and Moyamoya disease with a homozygous RNF213 mutation
Peripheral pulmonary artery stenosis (PPAS) is a rare pulmonary vasculopathy characterized by multiple stenoses and obstructions in the peripheral pulmonary arteries. PPAS often develops in children with congenital diseases such as Williams syndrome and Alagille syndrome; however, recent studies hav...
Autores principales: | Takahashi, Kei, Nakamura, Junichi, Sakiyama, Shinya, Nakaya, Toshitaka, Sato, Takahiro, Watanabe, Taku, Ohira, Hiroshi, Makita, Keishi, Tomaru, Utano, Ishizu, Akihiro, Tsujino, Ichizo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938952/ https://www.ncbi.nlm.nih.gov/pubmed/31908915 http://dx.doi.org/10.1016/j.rmcr.2019.100977 |
Ejemplares similares
-
Rare RNF213 variant in adolescent with moyamoya disease
por: Cardoso, Ivana, et al.
Publicado: (2023) -
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease
por: Moteki, Yosuke, et al.
Publicado: (2015) -
Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
por: Fujimura, Miki, et al.
Publicado: (2014) -
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
por: Akagawa, Hiroyuki, et al.
Publicado: (2018) -
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
por: Kobayashi, Hatasu, et al.
Publicado: (2016)