Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequen
Externí odkaz:
https://doaj.org/article/9452f2d30f0a454aa154805cdae0f6ea
Autor:
Takanori Yamagata, Keisuke Nagasaki, Yutaka Negishi, Hirofumi Komaki, Shinji Saitoh, Jun Tohyama, Yasuyuki Nozaki, Ikumi Hori, Hiroko Tada, Daisuke Ieda
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
BackgroundSchaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprintedMAGEL2located in 15q11-q13.Yet, precise pathomechanism remains to be solved. We sequencedMAGEL2in p