Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Mirage Syndrome[original query] |
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MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PloS one 2018 11 13 (11): e0206184. Shima Hirohito, Hayashi Mie, Tachibana Takashi, Oshiro Makoto, Amano Naoko, Ishii Tomohiro, Haruna Hidenori, Igarashi Maki, Kon Masafumi, Fukuzawa Ryuji, Tanaka Yukichi, Fukami Maki, Hasegawa Tomonobu, Narumi Satos |
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer genetics 2020 7 245 42-48. Rentas Stefan, Pillai Vinodh, Wertheim Gerald B, Akgumus Gozde T, Nichols Kim E, Deardorff Matthew A, Conlin Laura K, Li Marilyn M, Olson Timothy S, Luo Minj |
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene. Human genome variation 2020 3 7 4. Onuma Shinsuke, Wada Tamaki, Araki Ryosuke, Wada Kazuko, Tanase-Nakao Kanako, Narumi Satoshi, Fukui Miho, Shoji Yasuko, Etani Yuri, Ida Shinobu, Kawai Masano |
- Page last reviewed:Feb 1, 2024
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