Gene: [12q2/NS1] Noonan syndrome 1; Turner phenotype with normal karyotype (pterygium colli syndrome);
|
REF |
PAT,LOC,LIN "Jamieson CR &: Nature Genet, 8, 357-360, 1994 PAT,LOC,LIN "Robin NH &: Am J Med Genet, 56, 94-96, 1995 |
|
KEY |
devd, face, pulm, card |
|
CLA |
unknown, basic |
|
LOC |
12 q22-t |
|
MIM |
MIM: 163950 |
