Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
Shima, Hirohito, Koehler, Katrin, Nomura, Yumiko, Sugimoto, Kazuhiko, Satoh, Akira, Ogata, Tsutomu, Fukami, Maki, Jühlen, Ramona, Schuelke, Markus, Mohnike, Klaus, Huebner, Angela, Narumi, SatoshiLanguage:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2017-105020
Date:
November, 2017
File:
PDF, 1.01 MB
english, 2017