Gene: [22q1/SOX10] SRY (sex determining region Y)-box 10; Waardenburg-Hirschsprung disease (MIM:277580); [WS4 ]
REF |
MUT "Pingault V &: Nature Genet, 18, N2, 171-173, 1998 MUT "Southard-Smith EM &: Nature Genet, 18, N1, 60-64, 1998 |
CLA |
coding, basic |
LOC |
22 q12-13 |
MIM |
MIM: 602229 |
SYN |
WS4 |