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Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
By:
- Kikumi Ushijima;
- Yuya Ogawa;
- Miho Terao;
- Yumi Asakura;
- Koji Muroya;
- Mie Hayashi;
- Tomohiro Ishii;
- Tomonobu Hasegawa;
- Ryohei Sekido;
- Maki Fukami;
- Shuji Takada;
- Satoshi Narumi
Publication type:
Article
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
Published in:
PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206184
By:
- 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, Satoshi
Publication type:
Article
Comprehensive genetic analyses of primary adrenal failure without enzymatic defects.
Published in:
2013
By:
- Amano, Naoko;
- Hayashi, Mie;
- Narumi, Satoshi;
- Muroya, Koji;
- Kizu, Rika;
- Mochizuki, Hiroshi;
- Taniguchi, Yuko;
- Matsuura, Hiroki;
- Homma, Keiko;
- Hasegawa, Tomonobu
Publication type:
Abstract