Gene: [08q2/SGM1] segmentation syndrome 1 (Klippel-Feil syndrome); [KFM KFS ]
COM |
Clarke-1995 demonstrated that Klippel-Feil syndrome cosegregates with a pericentric inversion inv(8)(q22.2;q23)." |
REF |
ABR,LOC "Clarke RA &: AJHG, 57, 1364-1370, 1995 |
CLA |
unknown, basic |
LOC |
08 q22.2-23 |
MIM |
MIM: 148900 |
SYN |
KFM KFS |