Gene: [07q2/SHFM1] split hand/foot malformation (ectrodactyly) type 1; [SHFD1 ECD ]
|
REL |
GEM:0Xq26/SHFM2; 10q2/SHFM3. |
|
REF |
LOC "Cobben JM &: J Med Genet, 32, 375-378, 1995 LOC "Genuardi M &: AJHG, 50, 101, 1994 LOC,MUT "Marinoni J-C &: Clin Genet, 47, 90-95, 1995 LOC "Morey MA, Higgins: Am J Med Genet, 32, 192-194, 1990 LIN,HET,NOM "Palmer SE &: AJHG, 55, 21-26, 1994 LOC "Roberts SH &: J Med Genet, 28, 479-481, 1991 LIN,LOC,MAG "Scherer SW &: AJHG, 55, 12-20, 1994a LOC,MAF "Scherer SW &: Hum Mol Genet, 3, 1345-1354, 1994b LOC "Sharland M &: Am J Med Genet, 39, 413-414, 1991 LOC "Tajara EH &: Am J Med Genet, 32, 192-194, 1989 |
|
KEY |
devd, bone |
|
CLA |
unknown, basic |
|
LOC |
07 q21.3-22.1 |
|
MIM |
MIM: 183600 |
|
SYN |
SHFD1 ECD |
