Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yosuke Nishio"'
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics. 60:359-367
PurposeThe Retriever subunitVPS35Lis the third responsible gene for Ritscher-Schinzel syndrome (RSS) afterWASHC5andCCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Huber, Céline, Antón-Plágaro, Carlos, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H., Naomichi Matsumoto, Cormier-Daire, Valerie, Cullen, Peter J., Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p359-367, 14p