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