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

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...

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Bibliographic Details
Main Authors: Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:Heliyon
Subjects:
ADH5/ALDH/ADGRV1 variants
Myelodysplastic syndrome
Trigenic mutations
Trio-next generation sequencing
Usher syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844021019071

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http://www.sciencedirect.com/science/article/pii/S2405844021019071

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