Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome

Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome. Whole genome sequencing of peripheral blood from the...

Descripción completa

Detalles Bibliográficos
Autores principales: Kinoshita, Shintaro, Ando, Miki, Ando, Jun, Ishii, Midori, Furukawa, Yoshiki, Tomita, Osamu, Azusawa, Yoko, Shirane, Shuichi, Kishita, Yoshihito, Yatsuka, Yukiko, Eguchi, Hidetaka, Okazaki, Yasushi, Komatsu, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379464/
https://www.ncbi.nlm.nih.gov/pubmed/34458631
http://dx.doi.org/10.1016/j.heliyon.2021.e07804

Ejemplares similares

Ejemplares similares