| 概要 |
Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway, and are called RASopathies.
|
|---|
| 著者 |
Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N |
|---|
| 著者 |
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y |
|---|
